SNP Links for Protein (Select 40068053) - SNP

Links from Protein

Items: 1 to 20 of 703

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Select item 14909792981.

rs1490979298 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:102920074 (GRCh38)
10:104679831 (GRCh37)
Canonical SPDI:: NC_000010.11:102920073:G:A
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102920074G>A, NC_000010.10:g.104679831G>A, NG_031932.1:g.6757G>A, NM_017649.4:c.1594G>A, NM_017649.5:c.1594G>A, NM_199076.2:c.1594G>A, NM_199076.3:c.1594G>A, NM_199077.2:c.1594G>A, NM_199077.3:c.1594G>A, NP_060119.3:p.Asp532Asn, NP_951058.1:p.Asp532Asn, NP_951059.1:p.Asp532Asn

Select item 14904657092.

rs1490465709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102918628 (GRCh38)
10:104678385 (GRCh37)
Canonical SPDI:: NC_000010.11:102918627:C:T
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.102918628C>T, NC_000010.10:g.104678385C>T, NG_031932.1:g.5311C>T, NM_017649.4:c.148C>T, NM_017649.5:c.148C>T, NM_199076.2:c.148C>T, NM_199076.3:c.148C>T, NM_199077.2:c.148C>T, NM_199077.3:c.148C>T, NP_060119.3:p.Pro50Ser, NP_951058.1:p.Pro50Ser, NP_951059.1:p.Pro50Ser

Select item 14888503513.

rs1488850351 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:102919935 (GRCh38)
10:104679692 (GRCh37)
Canonical SPDI:: NC_000010.11:102919934:A:G
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.102919935A>G, NC_000010.10:g.104679692A>G, NG_031932.1:g.6618A>G, NM_017649.4:c.1455A>G, NM_017649.5:c.1455A>G, NM_199076.2:c.1455A>G, NM_199076.3:c.1455A>G, NM_199077.2:c.1455A>G, NM_199077.3:c.1455A>G

Select item 14879145504.

rs1487914550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 10:102918620 (GRCh38)
10:104678377 (GRCh37)
Canonical SPDI:: NC_000010.11:102918619:G:A,NC_000010.11:102918619:G:C
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102918620G>A, NC_000010.11:g.102918620G>C, NC_000010.10:g.104678377G>A, NC_000010.10:g.104678377G>C, NG_031932.1:g.5303G>A, NG_031932.1:g.5303G>C, NM_017649.4:c.140G>A, NM_017649.4:c.140G>C, NM_017649.5:c.140G>A, NM_017649.5:c.140G>C, NM_199076.2:c.140G>A, NM_199076.2:c.140G>C, NM_199076.3:c.140G>A, NM_199076.3:c.140G>C, NM_199077.2:c.140G>A, NM_199077.2:c.140G>C, NM_199077.3:c.140G>A, NM_199077.3:c.140G>C, NP_060119.3:p.Arg47Gln, NP_060119.3:p.Arg47Pro, NP_951058.1:p.Arg47Gln, NP_951058.1:p.Arg47Pro, NP_951059.1:p.Arg47Gln, NP_951059.1:p.Arg47Pro

Select item 14872881275.

rs1487288127 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:102918576 (GRCh38)
10:104678333 (GRCh37)
Canonical SPDI:: NC_000010.11:102918575:C:G
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000068/2 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.102918576C>G, NC_000010.10:g.104678333C>G, NG_031932.1:g.5259C>G, NM_017649.4:c.96C>G, NM_017649.5:c.96C>G, NM_199076.2:c.96C>G, NM_199076.3:c.96C>G, NM_199077.2:c.96C>G, NM_199077.3:c.96C>G, NP_060119.3:p.Ser32Arg, NP_951058.1:p.Ser32Arg, NP_951059.1:p.Ser32Arg

Select item 14872810406.

rs1487281040 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:103077029 (GRCh38)
10:104836786 (GRCh37)
Canonical SPDI:: NC_000010.11:103077028:A:C
Gene:: CNNM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.103077029A>C, NC_000010.10:g.104836786A>C, NG_031932.1:g.163712A>C, NM_017649.4:c.2477A>C, NM_017649.5:c.2477A>C, NM_199076.2:c.2411A>C, NM_199076.3:c.2411A>C, NP_060119.3:p.Gln826Pro, NP_951058.1:p.Gln804Pro

Select item 14819954667.

rs1481995466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:103077032 (GRCh38)
10:104836789 (GRCh37)
Canonical SPDI:: NC_000010.11:103077031:C:T
Gene:: CNNM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.103077032C>T, NC_000010.10:g.104836789C>T, NG_031932.1:g.163715C>T, NM_017649.4:c.2480C>T, NM_017649.5:c.2480C>T, NM_199076.2:c.2414C>T, NM_199076.3:c.2414C>T, NP_060119.3:p.Ser827Phe, NP_951058.1:p.Ser805Phe

Select item 14815925778.

rs1481592577 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102919611 (GRCh38)
10:104679368 (GRCh37)
Canonical SPDI:: NC_000010.11:102919610:C:T
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.102919611C>T, NC_000010.10:g.104679368C>T, NG_031932.1:g.6294C>T, NM_017649.4:c.1131C>T, NM_017649.5:c.1131C>T, NM_199076.2:c.1131C>T, NM_199076.3:c.1131C>T, NM_199077.2:c.1131C>T, NM_199077.3:c.1131C>T

Select item 14815103879.

rs1481510387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103077144 (GRCh38)
10:104836901 (GRCh37)
Canonical SPDI:: NC_000010.11:103077143:G:A
Gene:: CNNM2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000010.11:g.103077144G>A, NC_000010.10:g.104836901G>A, NG_031932.1:g.163827G>A, NM_017649.4:c.2592G>A, NM_017649.5:c.2592G>A, NM_199076.2:c.2526G>A, NM_199076.3:c.2526G>A

Select item 148087377110.

rs1480873771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:102919906 (GRCh38)
10:104679663 (GRCh37)
Canonical SPDI:: NC_000010.11:102919905:A:G
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_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_000010.11:g.102919906A>G, NC_000010.10:g.104679663A>G, NG_031932.1:g.6589A>G, NM_017649.4:c.1426A>G, NM_017649.5:c.1426A>G, NM_199076.2:c.1426A>G, NM_199076.3:c.1426A>G, NM_199077.2:c.1426A>G, NM_199077.3:c.1426A>G, NP_060119.3:p.Ser476Gly, NP_951058.1:p.Ser476Gly, NP_951059.1:p.Ser476Gly

Select item 148072002311.

rs1480720023 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:102918592 (GRCh38)
10:104678349 (GRCh37)
Canonical SPDI:: NC_000010.11:102918591:C:G,NC_000010.11:102918591:C:T
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000106/2 (TOMMO)
HGVS:: NC_000010.11:g.102918592C>G, NC_000010.11:g.102918592C>T, NC_000010.10:g.104678349C>G, NC_000010.10:g.104678349C>T, NG_031932.1:g.5275C>G, NG_031932.1:g.5275C>T, NM_017649.4:c.112C>G, NM_017649.4:c.112C>T, NM_017649.5:c.112C>G, NM_017649.5:c.112C>T, NM_199076.2:c.112C>G, NM_199076.2:c.112C>T, NM_199076.3:c.112C>G, NM_199076.3:c.112C>T, NM_199077.2:c.112C>G, NM_199077.2:c.112C>T, NM_199077.3:c.112C>G, NM_199077.3:c.112C>T, NP_060119.3:p.Arg38Gly, NP_060119.3:p.Arg38Trp, NP_951058.1:p.Arg38Gly, NP_951058.1:p.Arg38Trp, NP_951059.1:p.Arg38Gly, NP_951059.1:p.Arg38Trp

Select item 148007913512.

rs1480079135 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:103049724 (GRCh38)
10:104809481 (GRCh37)
Canonical SPDI:: NC_000010.11:103049723:A:G
Gene:: CNNM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.103049724A>G, NC_000010.10:g.104809481A>G, NG_031932.1:g.136407A>G, NM_017649.4:c.1639A>G, NM_017649.5:c.1639A>G, NM_199076.2:c.1639A>G, NM_199076.3:c.1639A>G, NP_060119.3:p.Ile547Val, NP_951058.1:p.Ile547Val

Select item 147908213813.

rs1479082138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102919086 (GRCh38)
10:104678843 (GRCh37)
Canonical SPDI:: NC_000010.11:102919085:C:T
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.102919086C>T, NC_000010.10:g.104678843C>T, NG_031932.1:g.5769C>T, NM_017649.4:c.606C>T, NM_017649.5:c.606C>T, NM_199076.2:c.606C>T, NM_199076.3:c.606C>T, NM_199077.2:c.606C>T, NM_199077.3:c.606C>T

Select item 147781508714.

rs1477815087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:103076242 (GRCh38)
10:104835999 (GRCh37)
Canonical SPDI:: NC_000010.11:103076241:G:A
Gene:: CNNM2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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_000010.11:g.103076242G>A, NC_000010.10:g.104835999G>A, NG_031932.1:g.162925G>A, NM_017649.4:c.2390G>A, NM_017649.5:c.2390G>A, NM_199076.2:c.2324G>A, NM_199076.3:c.2324G>A, NP_060119.3:p.Arg797Gln, NP_951058.1:p.Arg775Gln

Select item 147770558415.

rs1477705584 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 10:103071797 (GRCh38)
10:104831554 (GRCh37)
Canonical SPDI:: NC_000010.11:103071796:TTT:TT
Gene:: CNNM2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.103071799del, NC_000010.10:g.104831556del, NG_031932.1:g.158482del, NM_017649.4:c.2193del, NM_017649.5:c.2193del, NP_060119.3:p.Phe731fs

Select item 146951880516.

rs1469518805 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:102919566 (GRCh38)
10:104679323 (GRCh37)
Canonical SPDI:: NC_000010.11:102919565:C:T
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.102919566C>T, NC_000010.10:g.104679323C>T, NG_031932.1:g.6249C>T, NM_017649.4:c.1086C>T, NM_017649.5:c.1086C>T, NM_199076.2:c.1086C>T, NM_199076.3:c.1086C>T, NM_199077.2:c.1086C>T, NM_199077.3:c.1086C>T

Select item 146924484317.

rs1469244843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:102919176 (GRCh38)
10:104678933 (GRCh37)
Canonical SPDI:: NC_000010.11:102919175:C:A,NC_000010.11:102919175:C:T
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102919176C>A, NC_000010.11:g.102919176C>T, NC_000010.10:g.104678933C>A, NC_000010.10:g.104678933C>T, NG_031932.1:g.5859C>A, NG_031932.1:g.5859C>T, NM_017649.4:c.696C>A, NM_017649.4:c.696C>T, NM_017649.5:c.696C>A, NM_017649.5:c.696C>T, NM_199076.2:c.696C>A, NM_199076.2:c.696C>T, NM_199076.3:c.696C>A, NM_199076.3:c.696C>T, NM_199077.2:c.696C>A, NM_199077.2:c.696C>T, NM_199077.3:c.696C>A, NM_199077.3:c.696C>T

Select item 146822150918.

rs1468221509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:102918667 (GRCh38)
10:104678424 (GRCh37)
Canonical SPDI:: NC_000010.11:102918666:T:C
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.102918667T>C, NC_000010.10:g.104678424T>C, NG_031932.1:g.5350T>C, NM_017649.4:c.187T>C, NM_017649.5:c.187T>C, NM_199076.2:c.187T>C, NM_199076.3:c.187T>C, NM_199077.2:c.187T>C, NM_199077.3:c.187T>C, NP_060119.3:p.Cys63Arg, NP_951058.1:p.Cys63Arg, NP_951059.1:p.Cys63Arg

Select item 146772956919.

rs1467729569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:102919841 (GRCh38)
10:104679598 (GRCh37)
Canonical SPDI:: NC_000010.11:102919840:G:T
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102919841G>T, NC_000010.10:g.104679598G>T, NG_031932.1:g.6524G>T, NM_017649.4:c.1361G>T, NM_017649.5:c.1361G>T, NM_199076.2:c.1361G>T, NM_199076.3:c.1361G>T, NM_199077.2:c.1361G>T, NM_199077.3:c.1361G>T, NP_060119.3:p.Arg454Leu, NP_951058.1:p.Arg454Leu, NP_951059.1:p.Arg454Leu

Select item 146539263220.

rs1465392632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:102918555 (GRCh38)
10:104678312 (GRCh37)
Canonical SPDI:: NC_000010.11:102918554:G:T
Gene:: CNNM2 (Varview), LOC107984265 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.102918555G>T, NC_000010.10:g.104678312G>T, NG_031932.1:g.5238G>T, NM_017649.4:c.75G>T, NM_017649.5:c.75G>T, NM_199076.2:c.75G>T, NM_199076.3:c.75G>T, NM_199077.2:c.75G>T, NM_199077.3:c.75G>T, NP_060119.3:p.Trp25Cys, NP_951058.1:p.Trp25Cys, NP_951059.1:p.Trp25Cys

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