SNP Links for Protein (Select 54792105) - SNP

Links from Protein

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Select item 14868385431.

rs1486838543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137014972 (GRCh38)
7:136699719 (GRCh37)
Canonical SPDI:: NC_000007.14:137014971:T:C
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.137014972T>C, NC_000007.13:g.136699719T>C, NG_011846.2:g.151321T>C, NM_001006627.3:c.107T>C, NM_001006627.2:c.107T>C, NM_001006627.1:c.107T>C, NM_001006626.3:c.107T>C, NM_001006626.2:c.107T>C, NM_001006626.1:c.107T>C, NM_000739.3:c.107T>C, NM_000739.2:c.107T>C, NM_001006631.3:c.107T>C, NM_001006631.2:c.107T>C, NM_001006631.1:c.107T>C, NM_001006628.3:c.107T>C, NM_001006628.2:c.107T>C, NM_001006628.1:c.107T>C, NM_001006632.3:c.107T>C, NM_001006632.2:c.107T>C, NM_001006632.1:c.107T>C, NM_001006629.3:c.107T>C, NM_001006629.2:c.107T>C, NM_001006629.1:c.107T>C, NM_001006630.2:c.107T>C, NM_001006630.1:c.107T>C, NM_001378972.1:c.107T>C, NM_001378973.1:c.107T>C, XM_047419847.1:c.107T>C, NP_001006628.1:p.Val36Ala, NP_001006627.1:p.Val36Ala, NP_000730.1:p.Val36Ala, NP_001006632.1:p.Val36Ala, NP_001006629.1:p.Val36Ala, NP_001006633.1:p.Val36Ala, NP_001006630.1:p.Val36Ala, NP_001006631.1:p.Val36Ala, NP_001365901.1:p.Val36Ala, NP_001365902.1:p.Val36Ala, XP_047275803.1:p.Val36Ala

Select item 14859249042.

rs1485924904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:137015666 (GRCh38)
7:136700413 (GRCh37)
Canonical SPDI:: NC_000007.14:137015665:G:C
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137015666G>C, NC_000007.13:g.136700413G>C, NG_011846.2:g.152015G>C, NM_001006627.3:c.801G>C, NM_001006627.2:c.801G>C, NM_001006627.1:c.801G>C, NM_001006626.3:c.801G>C, NM_001006626.2:c.801G>C, NM_001006626.1:c.801G>C, NM_000739.3:c.801G>C, NM_000739.2:c.801G>C, NM_001006631.3:c.801G>C, NM_001006631.2:c.801G>C, NM_001006631.1:c.801G>C, NM_001006628.3:c.801G>C, NM_001006628.2:c.801G>C, NM_001006628.1:c.801G>C, NM_001006632.3:c.801G>C, NM_001006632.2:c.801G>C, NM_001006632.1:c.801G>C, NM_001006629.3:c.801G>C, NM_001006629.2:c.801G>C, NM_001006629.1:c.801G>C, NM_001006630.2:c.801G>C, NM_001006630.1:c.801G>C, NM_001378972.1:c.801G>C, NM_001378973.1:c.801G>C, XM_047419847.1:c.801G>C, NP_001006628.1:p.Arg267Ser, NP_001006627.1:p.Arg267Ser, NP_000730.1:p.Arg267Ser, NP_001006632.1:p.Arg267Ser, NP_001006629.1:p.Arg267Ser, NP_001006633.1:p.Arg267Ser, NP_001006630.1:p.Arg267Ser, NP_001006631.1:p.Arg267Ser, NP_001365901.1:p.Arg267Ser, NP_001365902.1:p.Arg267Ser, XP_047275803.1:p.Arg267Ser

Select item 14811489883.

rs1481148988 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137015894 (GRCh38)
7:136700641 (GRCh37)
Canonical SPDI:: NC_000007.14:137015893:C:T
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.137015894C>T, NC_000007.13:g.136700641C>T, NG_011846.2:g.152243C>T, NM_001006627.3:c.1029C>T, NM_001006627.2:c.1029C>T, NM_001006627.1:c.1029C>T, NM_001006626.3:c.1029C>T, NM_001006626.2:c.1029C>T, NM_001006626.1:c.1029C>T, NM_000739.3:c.1029C>T, NM_000739.2:c.1029C>T, NM_001006631.3:c.1029C>T, NM_001006631.2:c.1029C>T, NM_001006631.1:c.1029C>T, NM_001006628.3:c.1029C>T, NM_001006628.2:c.1029C>T, NM_001006628.1:c.1029C>T, NM_001006632.3:c.1029C>T, NM_001006632.2:c.1029C>T, NM_001006632.1:c.1029C>T, NM_001006629.3:c.1029C>T, NM_001006629.2:c.1029C>T, NM_001006629.1:c.1029C>T, NM_001006630.2:c.1029C>T, NM_001006630.1:c.1029C>T, NM_001378972.1:c.1029C>T, NM_001378973.1:c.1029C>T, XM_047419847.1:c.1029C>T

Select item 14762287394.

rs1476228739 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:137015897 (GRCh38)
7:136700644 (GRCh37)
Canonical SPDI:: NC_000007.14:137015896:G:T
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137015897G>T, NC_000007.13:g.136700644G>T, NG_011846.2:g.152246G>T, NM_001006627.3:c.1032G>T, NM_001006627.2:c.1032G>T, NM_001006627.1:c.1032G>T, NM_001006626.3:c.1032G>T, NM_001006626.2:c.1032G>T, NM_001006626.1:c.1032G>T, NM_000739.3:c.1032G>T, NM_000739.2:c.1032G>T, NM_001006631.3:c.1032G>T, NM_001006631.2:c.1032G>T, NM_001006631.1:c.1032G>T, NM_001006628.3:c.1032G>T, NM_001006628.2:c.1032G>T, NM_001006628.1:c.1032G>T, NM_001006632.3:c.1032G>T, NM_001006632.2:c.1032G>T, NM_001006632.1:c.1032G>T, NM_001006629.3:c.1032G>T, NM_001006629.2:c.1032G>T, NM_001006629.1:c.1032G>T, NM_001006630.2:c.1032G>T, NM_001006630.1:c.1032G>T, NM_001378972.1:c.1032G>T, NM_001378973.1:c.1032G>T, XM_047419847.1:c.1032G>T

Select item 14746127665.

rs1474612766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:137015522 (GRCh38)
7:136700269 (GRCh37)
Canonical SPDI:: NC_000007.14:137015521:G:A
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137015522G>A, NC_000007.13:g.136700269G>A, NG_011846.2:g.151871G>A, NM_001006627.3:c.657G>A, NM_001006627.2:c.657G>A, NM_001006627.1:c.657G>A, NM_001006626.3:c.657G>A, NM_001006626.2:c.657G>A, NM_001006626.1:c.657G>A, NM_000739.3:c.657G>A, NM_000739.2:c.657G>A, NM_001006631.3:c.657G>A, NM_001006631.2:c.657G>A, NM_001006631.1:c.657G>A, NM_001006628.3:c.657G>A, NM_001006628.2:c.657G>A, NM_001006628.1:c.657G>A, NM_001006632.3:c.657G>A, NM_001006632.2:c.657G>A, NM_001006632.1:c.657G>A, NM_001006629.3:c.657G>A, NM_001006629.2:c.657G>A, NM_001006629.1:c.657G>A, NM_001006630.2:c.657G>A, NM_001006630.1:c.657G>A, NM_001378972.1:c.657G>A, NM_001378973.1:c.657G>A, XM_047419847.1:c.657G>A

Select item 14709946496.

rs1470994649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:137016228 (GRCh38)
7:136700975 (GRCh37)
Canonical SPDI:: NC_000007.14:137016227:C:A,NC_000007.14:137016227:C:G
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.137016228C>A, NC_000007.14:g.137016228C>G, NC_000007.13:g.136700975C>A, NC_000007.13:g.136700975C>G, NG_011846.2:g.152577C>A, NG_011846.2:g.152577C>G, NM_001006627.3:c.1363C>A, NM_001006627.3:c.1363C>G, NM_001006627.2:c.1363C>A, NM_001006627.2:c.1363C>G, NM_001006627.1:c.1363C>A, NM_001006627.1:c.1363C>G, NM_001006626.3:c.1363C>A, NM_001006626.3:c.1363C>G, NM_001006626.2:c.1363C>A, NM_001006626.2:c.1363C>G, NM_001006626.1:c.1363C>A, NM_001006626.1:c.1363C>G, NM_000739.3:c.1363C>A, NM_000739.3:c.1363C>G, NM_000739.2:c.1363C>A, NM_000739.2:c.1363C>G, NM_001006631.3:c.1363C>A, NM_001006631.3:c.1363C>G, NM_001006631.2:c.1363C>A, NM_001006631.2:c.1363C>G, NM_001006631.1:c.1363C>A, NM_001006631.1:c.1363C>G, NM_001006628.3:c.1363C>A, NM_001006628.3:c.1363C>G, NM_001006628.2:c.1363C>A, NM_001006628.2:c.1363C>G, NM_001006628.1:c.1363C>A, NM_001006628.1:c.1363C>G, NM_001006632.3:c.1363C>A, NM_001006632.3:c.1363C>G, NM_001006632.2:c.1363C>A, NM_001006632.2:c.1363C>G, NM_001006632.1:c.1363C>A, NM_001006632.1:c.1363C>G, NM_001006629.3:c.1363C>A, NM_001006629.3:c.1363C>G, NM_001006629.2:c.1363C>A, NM_001006629.2:c.1363C>G, NM_001006629.1:c.1363C>A, NM_001006629.1:c.1363C>G, NM_001006630.2:c.1363C>A, NM_001006630.2:c.1363C>G, NM_001006630.1:c.1363C>A, NM_001006630.1:c.1363C>G, NM_001378972.1:c.1363C>A, NM_001378972.1:c.1363C>G, NM_001378973.1:c.1363C>A, NM_001378973.1:c.1363C>G, XM_047419847.1:c.1363C>A, XM_047419847.1:c.1363C>G, NP_001006628.1:p.Leu455Ile, NP_001006628.1:p.Leu455Val, NP_001006627.1:p.Leu455Ile, NP_001006627.1:p.Leu455Val, NP_000730.1:p.Leu455Ile, NP_000730.1:p.Leu455Val, NP_001006632.1:p.Leu455Ile, NP_001006632.1:p.Leu455Val, NP_001006629.1:p.Leu455Ile, NP_001006629.1:p.Leu455Val, NP_001006633.1:p.Leu455Ile, NP_001006633.1:p.Leu455Val, NP_001006630.1:p.Leu455Ile, NP_001006630.1:p.Leu455Val, NP_001006631.1:p.Leu455Ile, NP_001006631.1:p.Leu455Val, NP_001365901.1:p.Leu455Ile, NP_001365901.1:p.Leu455Val, NP_001365902.1:p.Leu455Ile, NP_001365902.1:p.Leu455Val, XP_047275803.1:p.Leu455Ile, XP_047275803.1:p.Leu455Val

Select item 14693945547.

rs1469394554 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:137015781 (GRCh38)
7:136700528 (GRCh37)
Canonical SPDI:: NC_000007.14:137015780:A:C
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000049/13 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000007.14:g.137015781A>C, NC_000007.13:g.136700528A>C, NG_011846.2:g.152130A>C, NM_001006627.3:c.916A>C, NM_001006627.2:c.916A>C, NM_001006627.1:c.916A>C, NM_001006626.3:c.916A>C, NM_001006626.2:c.916A>C, NM_001006626.1:c.916A>C, NM_000739.3:c.916A>C, NM_000739.2:c.916A>C, NM_001006631.3:c.916A>C, NM_001006631.2:c.916A>C, NM_001006631.1:c.916A>C, NM_001006628.3:c.916A>C, NM_001006628.2:c.916A>C, NM_001006628.1:c.916A>C, NM_001006632.3:c.916A>C, NM_001006632.2:c.916A>C, NM_001006632.1:c.916A>C, NM_001006629.3:c.916A>C, NM_001006629.2:c.916A>C, NM_001006629.1:c.916A>C, NM_001006630.2:c.916A>C, NM_001006630.1:c.916A>C, NM_001378972.1:c.916A>C, NM_001378973.1:c.916A>C, XM_047419847.1:c.916A>C, NP_001006628.1:p.Asn306His, NP_001006627.1:p.Asn306His, NP_000730.1:p.Asn306His, NP_001006632.1:p.Asn306His, NP_001006629.1:p.Asn306His, NP_001006633.1:p.Asn306His, NP_001006630.1:p.Asn306His, NP_001006631.1:p.Asn306His, NP_001365901.1:p.Asn306His, NP_001365902.1:p.Asn306His, XP_047275803.1:p.Asn306His

Select item 14644769988.

rs1464476998 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137016173 (GRCh38)
7:136700920 (GRCh37)
Canonical SPDI:: NC_000007.14:137016172:C:T
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137016173C>T, NC_000007.13:g.136700920C>T, NG_011846.2:g.152522C>T, NM_001006627.3:c.1308C>T, NM_001006627.2:c.1308C>T, NM_001006627.1:c.1308C>T, NM_001006626.3:c.1308C>T, NM_001006626.2:c.1308C>T, NM_001006626.1:c.1308C>T, NM_000739.3:c.1308C>T, NM_000739.2:c.1308C>T, NM_001006631.3:c.1308C>T, NM_001006631.2:c.1308C>T, NM_001006631.1:c.1308C>T, NM_001006628.3:c.1308C>T, NM_001006628.2:c.1308C>T, NM_001006628.1:c.1308C>T, NM_001006632.3:c.1308C>T, NM_001006632.2:c.1308C>T, NM_001006632.1:c.1308C>T, NM_001006629.3:c.1308C>T, NM_001006629.2:c.1308C>T, NM_001006629.1:c.1308C>T, NM_001006630.2:c.1308C>T, NM_001006630.1:c.1308C>T, NM_001378972.1:c.1308C>T, NM_001378973.1:c.1308C>T, XM_047419847.1:c.1308C>T

Select item 14630608999.

rs1463060899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137015824 (GRCh38)
7:136700571 (GRCh37)
Canonical SPDI:: NC_000007.14:137015823:C:T
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000007.14:g.137015824C>T, NC_000007.13:g.136700571C>T, NG_011846.2:g.152173C>T, NM_001006627.3:c.959C>T, NM_001006627.2:c.959C>T, NM_001006627.1:c.959C>T, NM_001006626.3:c.959C>T, NM_001006626.2:c.959C>T, NM_001006626.1:c.959C>T, NM_000739.3:c.959C>T, NM_000739.2:c.959C>T, NM_001006631.3:c.959C>T, NM_001006631.2:c.959C>T, NM_001006631.1:c.959C>T, NM_001006628.3:c.959C>T, NM_001006628.2:c.959C>T, NM_001006628.1:c.959C>T, NM_001006632.3:c.959C>T, NM_001006632.2:c.959C>T, NM_001006632.1:c.959C>T, NM_001006629.3:c.959C>T, NM_001006629.2:c.959C>T, NM_001006629.1:c.959C>T, NM_001006630.2:c.959C>T, NM_001006630.1:c.959C>T, NM_001378972.1:c.959C>T, NM_001378973.1:c.959C>T, XM_047419847.1:c.959C>T, NP_001006628.1:p.Ser320Phe, NP_001006627.1:p.Ser320Phe, NP_000730.1:p.Ser320Phe, NP_001006632.1:p.Ser320Phe, NP_001006629.1:p.Ser320Phe, NP_001006633.1:p.Ser320Phe, NP_001006630.1:p.Ser320Phe, NP_001006631.1:p.Ser320Phe, NP_001365901.1:p.Ser320Phe, NP_001365902.1:p.Ser320Phe, XP_047275803.1:p.Ser320Phe

Select item 146251256710.

rs1462512567 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:137015692 (GRCh38)
7:136700439 (GRCh37)
Canonical SPDI:: NC_000007.14:137015691:A:G
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.137015692A>G, NC_000007.13:g.136700439A>G, NG_011846.2:g.152041A>G, NM_001006627.3:c.827A>G, NM_001006627.2:c.827A>G, NM_001006627.1:c.827A>G, NM_001006626.3:c.827A>G, NM_001006626.2:c.827A>G, NM_001006626.1:c.827A>G, NM_000739.3:c.827A>G, NM_000739.2:c.827A>G, NM_001006631.3:c.827A>G, NM_001006631.2:c.827A>G, NM_001006631.1:c.827A>G, NM_001006628.3:c.827A>G, NM_001006628.2:c.827A>G, NM_001006628.1:c.827A>G, NM_001006632.3:c.827A>G, NM_001006632.2:c.827A>G, NM_001006632.1:c.827A>G, NM_001006629.3:c.827A>G, NM_001006629.2:c.827A>G, NM_001006629.1:c.827A>G, NM_001006630.2:c.827A>G, NM_001006630.1:c.827A>G, NM_001378972.1:c.827A>G, NM_001378973.1:c.827A>G, XM_047419847.1:c.827A>G, NP_001006628.1:p.Gln276Arg, NP_001006627.1:p.Gln276Arg, NP_000730.1:p.Gln276Arg, NP_001006632.1:p.Gln276Arg, NP_001006629.1:p.Gln276Arg, NP_001006633.1:p.Gln276Arg, NP_001006630.1:p.Gln276Arg, NP_001006631.1:p.Gln276Arg, NP_001365901.1:p.Gln276Arg, NP_001365902.1:p.Gln276Arg, XP_047275803.1:p.Gln276Arg

Select item 145567934111.

rs1455679341 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:137015890 (GRCh38)
7:136700637 (GRCh37)
Canonical SPDI:: NC_000007.14:137015889:C:A
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.137015890C>A, NC_000007.13:g.136700637C>A, NG_011846.2:g.152239C>A, NM_001006627.3:c.1025C>A, NM_001006627.2:c.1025C>A, NM_001006627.1:c.1025C>A, NM_001006626.3:c.1025C>A, NM_001006626.2:c.1025C>A, NM_001006626.1:c.1025C>A, NM_000739.3:c.1025C>A, NM_000739.2:c.1025C>A, NM_001006631.3:c.1025C>A, NM_001006631.2:c.1025C>A, NM_001006631.1:c.1025C>A, NM_001006628.3:c.1025C>A, NM_001006628.2:c.1025C>A, NM_001006628.1:c.1025C>A, NM_001006632.3:c.1025C>A, NM_001006632.2:c.1025C>A, NM_001006632.1:c.1025C>A, NM_001006629.3:c.1025C>A, NM_001006629.2:c.1025C>A, NM_001006629.1:c.1025C>A, NM_001006630.2:c.1025C>A, NM_001006630.1:c.1025C>A, NM_001378972.1:c.1025C>A, NM_001378973.1:c.1025C>A, XM_047419847.1:c.1025C>A, NP_001006628.1:p.Thr342Asn, NP_001006627.1:p.Thr342Asn, NP_000730.1:p.Thr342Asn, NP_001006632.1:p.Thr342Asn, NP_001006629.1:p.Thr342Asn, NP_001006633.1:p.Thr342Asn, NP_001006630.1:p.Thr342Asn, NP_001006631.1:p.Thr342Asn, NP_001365901.1:p.Thr342Asn, NP_001365902.1:p.Thr342Asn, XP_047275803.1:p.Thr342Asn

Select item 145506779112.

rs1455067791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:137015901 (GRCh38)
7:136700648 (GRCh37)
Canonical SPDI:: NC_000007.14:137015900:G:A,NC_000007.14:137015900:G:T
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.137015901G>A, NC_000007.14:g.137015901G>T, NC_000007.13:g.136700648G>A, NC_000007.13:g.136700648G>T, NG_011846.2:g.152250G>A, NG_011846.2:g.152250G>T, NM_001006627.3:c.1036G>A, NM_001006627.3:c.1036G>T, NM_001006627.2:c.1036G>A, NM_001006627.2:c.1036G>T, NM_001006627.1:c.1036G>A, NM_001006627.1:c.1036G>T, NM_001006626.3:c.1036G>A, NM_001006626.3:c.1036G>T, NM_001006626.2:c.1036G>A, NM_001006626.2:c.1036G>T, NM_001006626.1:c.1036G>A, NM_001006626.1:c.1036G>T, NM_000739.3:c.1036G>A, NM_000739.3:c.1036G>T, NM_000739.2:c.1036G>A, NM_000739.2:c.1036G>T, NM_001006631.3:c.1036G>A, NM_001006631.3:c.1036G>T, NM_001006631.2:c.1036G>A, NM_001006631.2:c.1036G>T, NM_001006631.1:c.1036G>A, NM_001006631.1:c.1036G>T, NM_001006628.3:c.1036G>A, NM_001006628.3:c.1036G>T, NM_001006628.2:c.1036G>A, NM_001006628.2:c.1036G>T, NM_001006628.1:c.1036G>A, NM_001006628.1:c.1036G>T, NM_001006632.3:c.1036G>A, NM_001006632.3:c.1036G>T, NM_001006632.2:c.1036G>A, NM_001006632.2:c.1036G>T, NM_001006632.1:c.1036G>A, NM_001006632.1:c.1036G>T, NM_001006629.3:c.1036G>A, NM_001006629.3:c.1036G>T, NM_001006629.2:c.1036G>A, NM_001006629.2:c.1036G>T, NM_001006629.1:c.1036G>A, NM_001006629.1:c.1036G>T, NM_001006630.2:c.1036G>A, NM_001006630.2:c.1036G>T, NM_001006630.1:c.1036G>A, NM_001006630.1:c.1036G>T, NM_001378972.1:c.1036G>A, NM_001378972.1:c.1036G>T, NM_001378973.1:c.1036G>A, NM_001378973.1:c.1036G>T, XM_047419847.1:c.1036G>A, XM_047419847.1:c.1036G>T, NP_001006628.1:p.Val346Ile, NP_001006628.1:p.Val346Leu, NP_001006627.1:p.Val346Ile, NP_001006627.1:p.Val346Leu, NP_000730.1:p.Val346Ile, NP_000730.1:p.Val346Leu, NP_001006632.1:p.Val346Ile, NP_001006632.1:p.Val346Leu, NP_001006629.1:p.Val346Ile, NP_001006629.1:p.Val346Leu, NP_001006633.1:p.Val346Ile, NP_001006633.1:p.Val346Leu, NP_001006630.1:p.Val346Ile, NP_001006630.1:p.Val346Leu, NP_001006631.1:p.Val346Ile, NP_001006631.1:p.Val346Leu, NP_001365901.1:p.Val346Ile, NP_001365901.1:p.Val346Leu, NP_001365902.1:p.Val346Ile, NP_001365902.1:p.Val346Leu, XP_047275803.1:p.Val346Ile, XP_047275803.1:p.Val346Leu

Select item 145461798613.

rs1454617986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:137015289 (GRCh38)
7:136700036 (GRCh37)
Canonical SPDI:: NC_000007.14:137015288:A:G
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000007.14:g.137015289A>G, NC_000007.13:g.136700036A>G, NG_011846.2:g.151638A>G, NM_001006627.3:c.424A>G, NM_001006627.2:c.424A>G, NM_001006627.1:c.424A>G, NM_001006626.3:c.424A>G, NM_001006626.2:c.424A>G, NM_001006626.1:c.424A>G, NM_000739.3:c.424A>G, NM_000739.2:c.424A>G, NM_001006631.3:c.424A>G, NM_001006631.2:c.424A>G, NM_001006631.1:c.424A>G, NM_001006628.3:c.424A>G, NM_001006628.2:c.424A>G, NM_001006628.1:c.424A>G, NM_001006632.3:c.424A>G, NM_001006632.2:c.424A>G, NM_001006632.1:c.424A>G, NM_001006629.3:c.424A>G, NM_001006629.2:c.424A>G, NM_001006629.1:c.424A>G, NM_001006630.2:c.424A>G, NM_001006630.1:c.424A>G, NM_001378972.1:c.424A>G, NM_001378973.1:c.424A>G, XM_047419847.1:c.424A>G, NP_001006628.1:p.Met142Val, NP_001006627.1:p.Met142Val, NP_000730.1:p.Met142Val, NP_001006632.1:p.Met142Val, NP_001006629.1:p.Met142Val, NP_001006633.1:p.Met142Val, NP_001006630.1:p.Met142Val, NP_001006631.1:p.Met142Val, NP_001365901.1:p.Met142Val, NP_001365902.1:p.Met142Val, XP_047275803.1:p.Met142Val

Select item 145453586914.

rs1454535869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:137016078 (GRCh38)
7:136700825 (GRCh37)
Canonical SPDI:: NC_000007.14:137016077:G:A
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137016078G>A, NC_000007.13:g.136700825G>A, NG_011846.2:g.152427G>A, NM_001006627.3:c.1213G>A, NM_001006627.2:c.1213G>A, NM_001006627.1:c.1213G>A, NM_001006626.3:c.1213G>A, NM_001006626.2:c.1213G>A, NM_001006626.1:c.1213G>A, NM_000739.3:c.1213G>A, NM_000739.2:c.1213G>A, NM_001006631.3:c.1213G>A, NM_001006631.2:c.1213G>A, NM_001006631.1:c.1213G>A, NM_001006628.3:c.1213G>A, NM_001006628.2:c.1213G>A, NM_001006628.1:c.1213G>A, NM_001006632.3:c.1213G>A, NM_001006632.2:c.1213G>A, NM_001006632.1:c.1213G>A, NM_001006629.3:c.1213G>A, NM_001006629.2:c.1213G>A, NM_001006629.1:c.1213G>A, NM_001006630.2:c.1213G>A, NM_001006630.1:c.1213G>A, NM_001378972.1:c.1213G>A, NM_001378973.1:c.1213G>A, XM_047419847.1:c.1213G>A, NP_001006628.1:p.Val405Ile, NP_001006627.1:p.Val405Ile, NP_000730.1:p.Val405Ile, NP_001006632.1:p.Val405Ile, NP_001006629.1:p.Val405Ile, NP_001006633.1:p.Val405Ile, NP_001006630.1:p.Val405Ile, NP_001006631.1:p.Val405Ile, NP_001365901.1:p.Val405Ile, NP_001365902.1:p.Val405Ile, XP_047275803.1:p.Val405Ile

Select item 145443143115.

rs1454431431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:137016204 (GRCh38)
7:136700951 (GRCh37)
Canonical SPDI:: NC_000007.14:137016203:T:C
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.137016204T>C, NC_000007.13:g.136700951T>C, NG_011846.2:g.152553T>C, NM_001006627.3:c.1339T>C, NM_001006627.2:c.1339T>C, NM_001006627.1:c.1339T>C, NM_001006626.3:c.1339T>C, NM_001006626.2:c.1339T>C, NM_001006626.1:c.1339T>C, NM_000739.3:c.1339T>C, NM_000739.2:c.1339T>C, NM_001006631.3:c.1339T>C, NM_001006631.2:c.1339T>C, NM_001006631.1:c.1339T>C, NM_001006628.3:c.1339T>C, NM_001006628.2:c.1339T>C, NM_001006628.1:c.1339T>C, NM_001006632.3:c.1339T>C, NM_001006632.2:c.1339T>C, NM_001006632.1:c.1339T>C, NM_001006629.3:c.1339T>C, NM_001006629.2:c.1339T>C, NM_001006629.1:c.1339T>C, NM_001006630.2:c.1339T>C, NM_001006630.1:c.1339T>C, NM_001378972.1:c.1339T>C, NM_001378973.1:c.1339T>C, XM_047419847.1:c.1339T>C, NP_001006628.1:p.Phe447Leu, NP_001006627.1:p.Phe447Leu, NP_000730.1:p.Phe447Leu, NP_001006632.1:p.Phe447Leu, NP_001006629.1:p.Phe447Leu, NP_001006633.1:p.Phe447Leu, NP_001006630.1:p.Phe447Leu, NP_001006631.1:p.Phe447Leu, NP_001365901.1:p.Phe447Leu, NP_001365902.1:p.Phe447Leu, XP_047275803.1:p.Phe447Leu

Select item 145438057316.

rs1454380573 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTGCCTCT>- [Show Flanks]
Chromosome:: 7:137015739 (GRCh38)
7:136700486 (GRCh37)
Canonical SPDI:: NC_000007.14:137015736:CTGTTGCCTCT:CT
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.137015739_137015747del, NC_000007.13:g.136700486_136700494del, NG_011846.2:g.152088_152096del, NM_001006627.3:c.874_882del, NM_001006627.2:c.874_882del, NM_001006627.1:c.874_882del, NM_001006626.3:c.874_882del, NM_001006626.2:c.874_882del, NM_001006626.1:c.874_882del, NM_000739.3:c.874_882del, NM_000739.2:c.874_882del, NM_001006631.3:c.874_882del, NM_001006631.2:c.874_882del, NM_001006631.1:c.874_882del, NM_001006628.3:c.874_882del, NM_001006628.2:c.874_882del, NM_001006628.1:c.874_882del, NM_001006632.3:c.874_882del, NM_001006632.2:c.874_882del, NM_001006632.1:c.874_882del, NM_001006629.3:c.874_882del, NM_001006629.2:c.874_882del, NM_001006629.1:c.874_882del, NM_001006630.2:c.874_882del, NM_001006630.1:c.874_882del, NM_001378972.1:c.874_882del, NM_001378973.1:c.874_882del, XM_047419847.1:c.874_882del, NP_001006628.1:p.Val292_Ser294del, NP_001006627.1:p.Val292_Ser294del, NP_000730.1:p.Val292_Ser294del, NP_001006632.1:p.Val292_Ser294del, NP_001006629.1:p.Val292_Ser294del, NP_001006633.1:p.Val292_Ser294del, NP_001006630.1:p.Val292_Ser294del, NP_001006631.1:p.Val292_Ser294del, NP_001365901.1:p.Val292_Ser294del, NP_001365902.1:p.Val292_Ser294del, XP_047275803.1:p.Val292_Ser294del

Select item 145333582917.

rs1453335829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:137015118 (GRCh38)
7:136699865 (GRCh37)
Canonical SPDI:: NC_000007.14:137015117:G:A
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.137015118G>A, NC_000007.13:g.136699865G>A, NG_011846.2:g.151467G>A, NM_001006627.3:c.253G>A, NM_001006627.2:c.253G>A, NM_001006627.1:c.253G>A, NM_001006626.3:c.253G>A, NM_001006626.2:c.253G>A, NM_001006626.1:c.253G>A, NM_000739.3:c.253G>A, NM_000739.2:c.253G>A, NM_001006631.3:c.253G>A, NM_001006631.2:c.253G>A, NM_001006631.1:c.253G>A, NM_001006628.3:c.253G>A, NM_001006628.2:c.253G>A, NM_001006628.1:c.253G>A, NM_001006632.3:c.253G>A, NM_001006632.2:c.253G>A, NM_001006632.1:c.253G>A, NM_001006629.3:c.253G>A, NM_001006629.2:c.253G>A, NM_001006629.1:c.253G>A, NM_001006630.2:c.253G>A, NM_001006630.1:c.253G>A, NM_001378972.1:c.253G>A, NM_001378973.1:c.253G>A, XM_047419847.1:c.253G>A, NP_001006628.1:p.Val85Met, NP_001006627.1:p.Val85Met, NP_000730.1:p.Val85Met, NP_001006632.1:p.Val85Met, NP_001006629.1:p.Val85Met, NP_001006633.1:p.Val85Met, NP_001006630.1:p.Val85Met, NP_001006631.1:p.Val85Met, NP_001365901.1:p.Val85Met, NP_001365902.1:p.Val85Met, XP_047275803.1:p.Val85Met

Select item 145148310118.

rs1451483101 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:137015881 (GRCh38)
7:136700628 (GRCh37)
Canonical SPDI:: NC_000007.14:137015880:C:T
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000007.14:g.137015881C>T, NC_000007.13:g.136700628C>T, NG_011846.2:g.152230C>T, NM_001006627.3:c.1016C>T, NM_001006627.2:c.1016C>T, NM_001006627.1:c.1016C>T, NM_001006626.3:c.1016C>T, NM_001006626.2:c.1016C>T, NM_001006626.1:c.1016C>T, NM_000739.3:c.1016C>T, NM_000739.2:c.1016C>T, NM_001006631.3:c.1016C>T, NM_001006631.2:c.1016C>T, NM_001006631.1:c.1016C>T, NM_001006628.3:c.1016C>T, NM_001006628.2:c.1016C>T, NM_001006628.1:c.1016C>T, NM_001006632.3:c.1016C>T, NM_001006632.2:c.1016C>T, NM_001006632.1:c.1016C>T, NM_001006629.3:c.1016C>T, NM_001006629.2:c.1016C>T, NM_001006629.1:c.1016C>T, NM_001006630.2:c.1016C>T, NM_001006630.1:c.1016C>T, NM_001378972.1:c.1016C>T, NM_001378973.1:c.1016C>T, XM_047419847.1:c.1016C>T, NP_001006628.1:p.Pro339Leu, NP_001006627.1:p.Pro339Leu, NP_000730.1:p.Pro339Leu, NP_001006632.1:p.Pro339Leu, NP_001006629.1:p.Pro339Leu, NP_001006633.1:p.Pro339Leu, NP_001006630.1:p.Pro339Leu, NP_001006631.1:p.Pro339Leu, NP_001365901.1:p.Pro339Leu, NP_001365902.1:p.Pro339Leu, XP_047275803.1:p.Pro339Leu

Select item 144770061319.

rs1447700613 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:137015509 (GRCh38)
7:136700256 (GRCh37)
Canonical SPDI:: NC_000007.14:137015508:G:A
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.137015509G>A, NC_000007.13:g.136700256G>A, NG_011846.2:g.151858G>A, NM_001006627.3:c.644G>A, NM_001006627.2:c.644G>A, NM_001006627.1:c.644G>A, NM_001006626.3:c.644G>A, NM_001006626.2:c.644G>A, NM_001006626.1:c.644G>A, NM_000739.3:c.644G>A, NM_000739.2:c.644G>A, NM_001006631.3:c.644G>A, NM_001006631.2:c.644G>A, NM_001006631.1:c.644G>A, NM_001006628.3:c.644G>A, NM_001006628.2:c.644G>A, NM_001006628.1:c.644G>A, NM_001006632.3:c.644G>A, NM_001006632.2:c.644G>A, NM_001006632.1:c.644G>A, NM_001006629.3:c.644G>A, NM_001006629.2:c.644G>A, NM_001006629.1:c.644G>A, NM_001006630.2:c.644G>A, NM_001006630.1:c.644G>A, NM_001378972.1:c.644G>A, NM_001378973.1:c.644G>A, XM_047419847.1:c.644G>A, NP_001006628.1:p.Ser215Asn, NP_001006627.1:p.Ser215Asn, NP_000730.1:p.Ser215Asn, NP_001006632.1:p.Ser215Asn, NP_001006629.1:p.Ser215Asn, NP_001006633.1:p.Ser215Asn, NP_001006630.1:p.Ser215Asn, NP_001006631.1:p.Ser215Asn, NP_001365901.1:p.Ser215Asn, NP_001365902.1:p.Ser215Asn, XP_047275803.1:p.Ser215Asn

Select item 144652387220.

rs1446523872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:137015269 (GRCh38)
7:136700016 (GRCh37)
Canonical SPDI:: NC_000007.14:137015268:G:A
Gene:: CHRM2 (Varview), LOC349160 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.137015269G>A, NC_000007.13:g.136700016G>A, NG_011846.2:g.151618G>A, NM_001006627.3:c.404G>A, NM_001006627.2:c.404G>A, NM_001006627.1:c.404G>A, NM_001006626.3:c.404G>A, NM_001006626.2:c.404G>A, NM_001006626.1:c.404G>A, NM_000739.3:c.404G>A, NM_000739.2:c.404G>A, NM_001006631.3:c.404G>A, NM_001006631.2:c.404G>A, NM_001006631.1:c.404G>A, NM_001006628.3:c.404G>A, NM_001006628.2:c.404G>A, NM_001006628.1:c.404G>A, NM_001006632.3:c.404G>A, NM_001006632.2:c.404G>A, NM_001006632.1:c.404G>A, NM_001006629.3:c.404G>A, NM_001006629.2:c.404G>A, NM_001006629.1:c.404G>A, NM_001006630.2:c.404G>A, NM_001006630.1:c.404G>A, NM_001378972.1:c.404G>A, NM_001378973.1:c.404G>A, XM_047419847.1:c.404G>A, NP_001006628.1:p.Arg135Gln, NP_001006627.1:p.Arg135Gln, NP_000730.1:p.Arg135Gln, NP_001006632.1:p.Arg135Gln, NP_001006629.1:p.Arg135Gln, NP_001006633.1:p.Arg135Gln, NP_001006630.1:p.Arg135Gln, NP_001006631.1:p.Arg135Gln, NP_001365901.1:p.Arg135Gln, NP_001365902.1:p.Arg135Gln, XP_047275803.1:p.Arg135Gln

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