SNP Links for Protein (Select 1200005341) - SNP

Select item 14814904161.

rs1481490416 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:80976129 (GRCh38)
16:81010026 (GRCh37)
Canonical SPDI:: NC_000016.10:80976127:TCT:T
Gene:: CMC2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.80976129_80976130del, NC_000016.9:g.81010026_81010027del, NW_025791800.1:g.24368_24369del, NM_020188.5:c.204_205del, NM_020188.4:c.204_205del, NM_020188.3:c.204_205del, NR_147838.2:n.588_589del, NR_147838.1:n.622_623del, NR_147839.2:n.489_490del, NR_147839.1:n.523_524del, NM_001351973.2:c.306_307del, NM_001351973.1:c.306_307del, NM_001351967.2:c.204_205del, NM_001351967.1:c.204_205del, NM_001351968.2:c.204_205del, NM_001351968.1:c.204_205del, NM_001351970.2:c.204_205del, NM_001351970.1:c.204_205del, NR_147840.2:n.429_430del, NR_147840.1:n.463_464del, NR_147843.2:n.203_204del, NR_147843.1:n.237_238del, NR_147841.2:n.319_320del, NR_147841.1:n.353_354del, NR_147842.2:n.275_276del, NR_147842.1:n.309_310del, NP_064573.1:p.Lys69fs, NP_001338902.1:p.Lys103fs, NP_001338896.1:p.Lys69fs, NP_001338897.1:p.Lys69fs, NP_001338899.1:p.Lys69fs

Select item 14772680142.

rs1477268014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:80981812 (GRCh38)
16:81015417 (GRCh37)
Canonical SPDI:: NC_000016.10:80981811:C:A,NC_000016.10:80981811:C:T
Gene:: CMC2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000016.10:g.80981812C>A, NC_000016.10:g.80981812C>T, NC_000016.9:g.81015417C>A, NC_000016.9:g.81015417C>T, NW_025791800.1:g.30051C>A, NW_025791800.1:g.30051C>T, NM_020188.5:c.147G>T, NM_020188.5:c.147G>A, NM_020188.4:c.147G>T, NM_020188.4:c.147G>A, NM_020188.3:c.147G>T, NM_020188.3:c.147G>A, NR_147838.2:n.421G>T, NR_147838.2:n.421G>A, NR_147838.1:n.455G>T, NR_147838.1:n.455G>A, NR_147839.2:n.432G>T, NR_147839.2:n.432G>A, NR_147839.1:n.466G>T, NR_147839.1:n.466G>A, NM_001351973.2:c.249G>T, NM_001351973.2:c.249G>A, NM_001351973.1:c.249G>T, NM_001351973.1:c.249G>A, NM_001351967.2:c.147G>T, NM_001351967.2:c.147G>A, NM_001351967.1:c.147G>T, NM_001351967.1:c.147G>A, NM_001351968.2:c.147G>T, NM_001351968.2:c.147G>A, NM_001351968.1:c.147G>T, NM_001351968.1:c.147G>A, NM_001351970.2:c.147G>T, NM_001351970.2:c.147G>A, NM_001351970.1:c.147G>T, NM_001351970.1:c.147G>A, NR_147842.2:n.218G>T, NR_147842.2:n.218G>A, NR_147842.1:n.252G>T, NR_147842.1:n.252G>A, NP_064573.1:p.Lys49Asn, NP_001338902.1:p.Lys83Asn, NP_001338896.1:p.Lys49Asn, NP_001338897.1:p.Lys49Asn, NP_001338899.1:p.Lys49Asn

Select item 14557863533.

rs1455786353 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:80997343 (GRCh38)
16:81030948 (GRCh37)
Canonical SPDI:: NC_000016.10:80997342:T:C
Gene:: CMC2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000248/4 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.80997343T>C, NC_000016.9:g.81030948T>C, NW_025791800.1:g.45582T>C, NM_020188.5:c.52A>G, NM_020188.4:c.52A>G, NM_020188.3:c.52A>G, NR_147838.2:n.326A>G, NR_147838.1:n.360A>G, NR_147839.2:n.239A>G, NR_147839.1:n.273A>G, NM_001351973.2:c.154A>G, NM_001351973.1:c.154A>G, NM_001351967.2:c.52A>G, NM_001351967.1:c.52A>G, NM_001351968.2:c.52A>G, NM_001351968.1:c.52A>G, NM_001351970.2:c.52A>G, NM_001351970.1:c.52A>G, NR_147840.2:n.239A>G, NR_147840.1:n.273A>G, NR_147841.2:n.239A>G, NR_147841.1:n.273A>G, NP_064573.1:p.Ile18Val, NP_001338902.1:p.Ile52Val, NP_001338896.1:p.Ile18Val, NP_001338897.1:p.Ile18Val, NP_001338899.1:p.Ile18Val

Select item 14372772654.

rs1437277265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 16:80997335 (GRCh38)
16:81030940 (GRCh37)
Canonical SPDI:: NC_000016.10:80997334:C:A,NC_000016.10:80997334:C:G
Gene:: CMC2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.80997335C>A, NC_000016.10:g.80997335C>G, NC_000016.9:g.81030940C>A, NC_000016.9:g.81030940C>G, NW_025791800.1:g.45574C>A, NW_025791800.1:g.45574C>G, NM_020188.5:c.60G>T, NM_020188.5:c.60G>C, NM_020188.4:c.60G>T, NM_020188.4:c.60G>C, NM_020188.3:c.60G>T, NM_020188.3:c.60G>C, NR_147838.2:n.334G>T, NR_147838.2:n.334G>C, NR_147838.1:n.368G>T, NR_147838.1:n.368G>C, NR_147839.2:n.247G>T, NR_147839.2:n.247G>C, NR_147839.1:n.281G>T, NR_147839.1:n.281G>C, NM_001351973.2:c.162G>T, NM_001351973.2:c.162G>C, NM_001351973.1:c.162G>T, NM_001351973.1:c.162G>C, NM_001351967.2:c.60G>T, NM_001351967.2:c.60G>C, NM_001351967.1:c.60G>T, NM_001351967.1:c.60G>C, NM_001351968.2:c.60G>T, NM_001351968.2:c.60G>C, NM_001351968.1:c.60G>T, NM_001351968.1:c.60G>C, NM_001351970.2:c.60G>T, NM_001351970.2:c.60G>C, NM_001351970.1:c.60G>T, NM_001351970.1:c.60G>C, NR_147840.2:n.247G>T, NR_147840.2:n.247G>C, NR_147840.1:n.281G>T, NR_147840.1:n.281G>C, NR_147841.2:n.247G>T, NR_147841.2:n.247G>C, NR_147841.1:n.281G>T, NR_147841.1:n.281G>C, NP_064573.1:p.Leu20Phe, NP_064573.1:p.Leu20Phe, NP_001338902.1:p.Leu54Phe, NP_001338902.1:p.Leu54Phe, NP_001338896.1:p.Leu20Phe, NP_001338896.1:p.Leu20Phe, NP_001338897.1:p.Leu20Phe, NP_001338897.1:p.Leu20Phe, NP_001338899.1:p.Leu20Phe, NP_001338899.1:p.Leu20Phe

Select item 14266759915.

rs1426675991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:80997380 (GRCh38)
16:81030985 (GRCh37)
Canonical SPDI:: NC_000016.10:80997379:T:C
Gene:: CMC2 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.80997380T>C, NC_000016.9:g.81030985T>C, NW_025791800.1:g.45619T>C, NM_020188.5:c.15A>G, NM_020188.4:c.15A>G, NM_020188.3:c.15A>G, NR_147838.2:n.289A>G, NR_147838.1:n.323A>G, NR_147839.2:n.202A>G, NR_147839.1:n.236A>G, NM_001351973.2:c.117A>G, NM_001351973.1:c.117A>G, NM_001351967.2:c.15A>G, NM_001351967.1:c.15A>G, NM_001351968.2:c.15A>G, NM_001351968.1:c.15A>G, NM_001351970.2:c.15A>G, NM_001351970.1:c.15A>G, NR_147840.2:n.202A>G, NR_147840.1:n.236A>G, NR_147841.2:n.202A>G, NR_147841.1:n.236A>G

Select item 14189250506.

rs1418925050 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:80976131 (GRCh38)
16:81010028 (GRCh37)
Canonical SPDI:: NC_000016.10:80976130:T:G
Gene:: CMC2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.80976131T>G, NC_000016.9:g.81010028T>G, NW_025791800.1:g.24370T>G, NM_020188.5:c.202A>C, NM_020188.4:c.202A>C, NM_020188.3:c.202A>C, NR_147838.2:n.586A>C, NR_147838.1:n.620A>C, NR_147839.2:n.487A>C, NR_147839.1:n.521A>C, NM_001351973.2:c.304A>C, NM_001351973.1:c.304A>C, NM_001351967.2:c.202A>C, NM_001351967.1:c.202A>C, NM_001351968.2:c.202A>C, NM_001351968.1:c.202A>C, NM_001351970.2:c.202A>C, NM_001351970.1:c.202A>C, NR_147840.2:n.427A>C, NR_147840.1:n.461A>C, NR_147843.2:n.201A>C, NR_147843.1:n.235A>C, NR_147841.2:n.317A>C, NR_147841.1:n.351A>C, NR_147842.2:n.273A>C, NR_147842.1:n.307A>C, NP_064573.1:p.Lys68Gln, NP_001338902.1:p.Lys102Gln, NP_001338896.1:p.Lys68Gln, NP_001338897.1:p.Lys68Gln, NP_001338899.1:p.Lys68Gln

Select item 14031929467.

rs1403192946 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:80997314 (GRCh38)
16:81030919 (GRCh37)
Canonical SPDI:: NC_000016.10:80997313:AT:
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.80997314_80997315del, NC_000016.9:g.81030919_81030920del, NW_025791800.1:g.45553_45554del, NM_020188.5:c.80_81del, NM_020188.4:c.80_81del, NM_020188.3:c.80_81del, NR_147838.2:n.354_355del, NR_147838.1:n.388_389del, NR_147839.2:n.267_268del, NR_147839.1:n.301_302del, NM_001351973.2:c.182_183del, NM_001351973.1:c.182_183del, NM_001351967.2:c.80_81del, NM_001351967.1:c.80_81del, NM_001351968.2:c.80_81del, NM_001351968.1:c.80_81del, NM_001351970.2:c.80_81del, NM_001351970.1:c.80_81del, NR_147840.2:n.267_268del, NR_147840.1:n.301_302del, NR_147841.2:n.267_268del, NR_147841.1:n.301_302del, NP_064573.1:p.Asn27fs, NP_001338902.1:p.Asn61fs, NP_001338896.1:p.Asn27fs, NP_001338897.1:p.Asn27fs, NP_001338899.1:p.Asn27fs

Select item 13971866738.

rs1397186673 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:80997382 (GRCh38)
16:81030987 (GRCh37)
Canonical SPDI:: NC_000016.10:80997381:A:T
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.80997382A>T, NC_000016.9:g.81030987A>T, NW_025791800.1:g.45621A>T, NM_020188.5:c.13T>A, NM_020188.4:c.13T>A, NM_020188.3:c.13T>A, NR_147838.2:n.287T>A, NR_147838.1:n.321T>A, NR_147839.2:n.200T>A, NR_147839.1:n.234T>A, NM_001351973.2:c.115T>A, NM_001351973.1:c.115T>A, NM_001351967.2:c.13T>A, NM_001351967.1:c.13T>A, NM_001351968.2:c.13T>A, NM_001351968.1:c.13T>A, NM_001351970.2:c.13T>A, NM_001351970.1:c.13T>A, NR_147840.2:n.200T>A, NR_147840.1:n.234T>A, NR_147841.2:n.200T>A, NR_147841.1:n.234T>A, NP_064573.1:p.Leu5Ile, NP_001338902.1:p.Leu39Ile, NP_001338896.1:p.Leu5Ile, NP_001338897.1:p.Leu5Ile, NP_001338899.1:p.Leu5Ile

Select item 13854040779.

rs1385404077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:80976149 (GRCh38)
16:81010046 (GRCh37)
Canonical SPDI:: NC_000016.10:80976148:G:A
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.80976149G>A, NC_000016.9:g.81010046G>A, NW_025791800.1:g.24388G>A, NM_020188.5:c.184C>T, NM_020188.4:c.184C>T, NM_020188.3:c.184C>T, NR_147838.2:n.568C>T, NR_147838.1:n.602C>T, NR_147839.2:n.469C>T, NR_147839.1:n.503C>T, NM_001351973.2:c.286C>T, NM_001351973.1:c.286C>T, NM_001351967.2:c.184C>T, NM_001351967.1:c.184C>T, NM_001351968.2:c.184C>T, NM_001351968.1:c.184C>T, NM_001351970.2:c.184C>T, NM_001351970.1:c.184C>T, NR_147840.2:n.409C>T, NR_147840.1:n.443C>T, NR_147843.2:n.183C>T, NR_147843.1:n.217C>T, NR_147841.2:n.299C>T, NR_147841.1:n.333C>T, NR_147842.2:n.255C>T, NR_147842.1:n.289C>T, NP_064573.1:p.His62Tyr, NP_001338902.1:p.His96Tyr, NP_001338896.1:p.His62Tyr, NP_001338897.1:p.His62Tyr, NP_001338899.1:p.His62Tyr

Select item 137916770210.

rs1379167702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:80976178 (GRCh38)
16:81010075 (GRCh37)
Canonical SPDI:: NC_000016.10:80976177:T:A
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.80976178T>A, NC_000016.9:g.81010075T>A, NW_025791800.1:g.24417T>A, NM_020188.5:c.155A>T, NM_020188.4:c.155A>T, NM_020188.3:c.155A>T, NR_147838.2:n.539A>T, NR_147838.1:n.573A>T, NR_147839.2:n.440A>T, NR_147839.1:n.474A>T, NM_001351973.2:c.257A>T, NM_001351973.1:c.257A>T, NM_001351967.2:c.155A>T, NM_001351967.1:c.155A>T, NM_001351968.2:c.155A>T, NM_001351968.1:c.155A>T, NM_001351970.2:c.155A>T, NM_001351970.1:c.155A>T, NR_147840.2:n.380A>T, NR_147840.1:n.414A>T, NR_147843.2:n.154A>T, NR_147843.1:n.188A>T, NR_147841.2:n.270A>T, NR_147841.1:n.304A>T, NR_147842.2:n.226A>T, NR_147842.1:n.260A>T, NP_064573.1:p.Tyr52Phe, NP_001338902.1:p.Tyr86Phe, NP_001338896.1:p.Tyr52Phe, NP_001338897.1:p.Tyr52Phe, NP_001338899.1:p.Tyr52Phe

Select item 137491052211.

rs1374910522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:80976148 (GRCh38)
16:81010045 (GRCh37)
Canonical SPDI:: NC_000016.10:80976147:T:C
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000071/1 (TOMMO)
HGVS:: NC_000016.10:g.80976148T>C, NC_000016.9:g.81010045T>C, NW_025791800.1:g.24387T>C, NM_020188.5:c.185A>G, NM_020188.4:c.185A>G, NM_020188.3:c.185A>G, NR_147838.2:n.569A>G, NR_147838.1:n.603A>G, NR_147839.2:n.470A>G, NR_147839.1:n.504A>G, NM_001351973.2:c.287A>G, NM_001351973.1:c.287A>G, NM_001351967.2:c.185A>G, NM_001351967.1:c.185A>G, NM_001351968.2:c.185A>G, NM_001351968.1:c.185A>G, NM_001351970.2:c.185A>G, NM_001351970.1:c.185A>G, NR_147840.2:n.410A>G, NR_147840.1:n.444A>G, NR_147843.2:n.184A>G, NR_147843.1:n.218A>G, NR_147841.2:n.300A>G, NR_147841.1:n.334A>G, NR_147842.2:n.256A>G, NR_147842.1:n.290A>G, NP_064573.1:p.His62Arg, NP_001338902.1:p.His96Arg, NP_001338896.1:p.His62Arg, NP_001338897.1:p.His62Arg, NP_001338899.1:p.His62Arg

Select item 136480438412.

rs1364804384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:80981841 (GRCh38)
16:81015446 (GRCh37)
Canonical SPDI:: NC_000016.10:80981840:C:T
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000531/9 (TOMMO)
HGVS:: NC_000016.10:g.80981841C>T, NC_000016.9:g.81015446C>T, NW_025791800.1:g.30080C>T, NM_020188.5:c.118G>A, NM_020188.4:c.118G>A, NM_020188.3:c.118G>A, NR_147838.2:n.392G>A, NR_147838.1:n.426G>A, NR_147839.2:n.403G>A, NR_147839.1:n.437G>A, NM_001351973.2:c.220G>A, NM_001351973.1:c.220G>A, NM_001351967.2:c.118G>A, NM_001351967.1:c.118G>A, NM_001351968.2:c.118G>A, NM_001351968.1:c.118G>A, NM_001351970.2:c.118G>A, NM_001351970.1:c.118G>A, NR_147842.2:n.189G>A, NR_147842.1:n.223G>A, NP_064573.1:p.Val40Ile, NP_001338902.1:p.Val74Ile, NP_001338896.1:p.Val40Ile, NP_001338897.1:p.Val40Ile, NP_001338899.1:p.Val40Ile

Select item 134750277113.

rs1347502771 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:80976162 (GRCh38)
16:81010059 (GRCh37)
Canonical SPDI:: NC_000016.10:80976161:G:C
Gene:: CMC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000016/4 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000016.10:g.80976162G>C, NC_000016.9:g.81010059G>C, NW_025791800.1:g.24401G>C, NM_020188.5:c.171C>G, NM_020188.4:c.171C>G, NM_020188.3:c.171C>G, NR_147838.2:n.555C>G, NR_147838.1:n.589C>G, NR_147839.2:n.456C>G, NR_147839.1:n.490C>G, NM_001351973.2:c.273C>G, NM_001351973.1:c.273C>G, NM_001351967.2:c.171C>G, NM_001351967.1:c.171C>G, NM_001351968.2:c.171C>G, NM_001351968.1:c.171C>G, NM_001351970.2:c.171C>G, NM_001351970.1:c.171C>G, NR_147840.2:n.396C>G, NR_147840.1:n.430C>G, NR_147843.2:n.170C>G, NR_147843.1:n.204C>G, NR_147841.2:n.286C>G, NR_147841.1:n.320C>G, NR_147842.2:n.242C>G, NR_147842.1:n.276C>G

Select item 133016004714.

rs1330160047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:80997314 (GRCh38)
16:81030919 (GRCh37)
Canonical SPDI:: NC_000016.10:80997313:A:G,NC_000016.10:80997313:A:T
Gene:: CMC2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.80997314A>G, NC_000016.10:g.80997314A>T, NC_000016.9:g.81030919A>G, NC_000016.9:g.81030919A>T, NW_025791800.1:g.45553A>G, NW_025791800.1:g.45553A>T, NM_020188.5:c.81T>C, NM_020188.5:c.81T>A, NM_020188.4:c.81T>C, NM_020188.4:c.81T>A, NM_020188.3:c.81T>C, NM_020188.3:c.81T>A, NR_147838.2:n.355T>C, NR_147838.2:n.355T>A, NR_147838.1:n.389T>C, NR_147838.1:n.389T>A, NR_147839.2:n.268T>C, NR_147839.2:n.268T>A, NR_147839.1:n.302T>C, NR_147839.1:n.302T>A, NM_001351973.2:c.183T>C, NM_001351973.2:c.183T>A, NM_001351973.1:c.183T>C, NM_001351973.1:c.183T>A, NM_001351967.2:c.81T>C, NM_001351967.2:c.81T>A, NM_001351967.1:c.81T>C, NM_001351967.1:c.81T>A, NM_001351968.2:c.81T>C, NM_001351968.2:c.81T>A, NM_001351968.1:c.81T>C, NM_001351968.1:c.81T>A, NM_001351970.2:c.81T>C, NM_001351970.2:c.81T>A, NM_001351970.1:c.81T>C, NM_001351970.1:c.81T>A, NR_147840.2:n.268T>C, NR_147840.2:n.268T>A, NR_147840.1:n.302T>C, NR_147840.1:n.302T>A, NR_147841.2:n.268T>C, NR_147841.2:n.268T>A, NR_147841.1:n.302T>C, NR_147841.1:n.302T>A, NP_064573.1:p.Asn27Lys, NP_001338902.1:p.Asn61Lys, NP_001338896.1:p.Asn27Lys, NP_001338897.1:p.Asn27Lys, NP_001338899.1:p.Asn27Lys

Select item 132258916915.

rs1322589169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:80981806 (GRCh38)
16:81015411 (GRCh37)
Canonical SPDI:: NC_000016.10:80981805:C:T
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.80981806C>T, NC_000016.9:g.81015411C>T, NW_025791800.1:g.30045C>T, NM_020188.5:c.153G>A, NM_020188.4:c.153G>A, NM_020188.3:c.153G>A, NR_147838.2:n.427G>A, NR_147838.1:n.461G>A, NR_147839.2:n.438G>A, NR_147839.1:n.472G>A, NM_001351973.2:c.255G>A, NM_001351973.1:c.255G>A, NM_001351967.2:c.153G>A, NM_001351967.1:c.153G>A, NM_001351968.2:c.153G>A, NM_001351968.1:c.153G>A, NM_001351970.2:c.153G>A, NM_001351970.1:c.153G>A, NR_147842.2:n.224G>A, NR_147842.1:n.258G>A

Select item 130001126416.

rs1300011264 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 16:80981850 (GRCh38)
16:81015455 (GRCh37)
Canonical SPDI:: NC_000016.10:80981849:AA:A
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.80981851del, NC_000016.9:g.81015456del, NW_025791800.1:g.30090del, NM_020188.5:c.109del, NM_020188.4:c.109del, NM_020188.3:c.109del, NR_147838.2:n.383del, NR_147838.1:n.417del, NR_147839.2:n.394del, NR_147839.1:n.428del, NM_001351973.2:c.211del, NM_001351973.1:c.211del, NM_001351967.2:c.109del, NM_001351967.1:c.109del, NM_001351968.2:c.109del, NM_001351968.1:c.109del, NM_001351970.2:c.109del, NM_001351970.1:c.109del, NR_147842.2:n.180del, NR_147842.1:n.214del, NP_064573.1:p.Cys37fs, NP_001338902.1:p.Cys71fs, NP_001338896.1:p.Cys37fs, NP_001338897.1:p.Cys37fs, NP_001338899.1:p.Cys37fs

Select item 126969784117.

rs1269697841 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:80981856 (GRCh38)
16:81015462 (GRCh37)
Canonical SPDI:: NC_000016.10:80981856:AAAAAA:AAAAAAA
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.80981862dup, NC_000016.9:g.81015467dup, NW_025791800.1:g.30101dup, NM_020188.5:c.102dup, NM_020188.4:c.102dup, NM_020188.3:c.102dup, NR_147838.2:n.376dup, NR_147838.1:n.410dup, NR_147839.2:n.387dup, NR_147839.1:n.421dup, NM_001351973.2:c.204dup, NM_001351973.1:c.204dup, NM_001351967.2:c.102dup, NM_001351967.1:c.102dup, NM_001351968.2:c.102dup, NM_001351968.1:c.102dup, NM_001351970.2:c.102dup, NM_001351970.1:c.102dup, NR_147842.2:n.173dup, NR_147842.1:n.207dup, NP_064573.1:p.Gly35fs, NP_001338902.1:p.Gly69fs, NP_001338896.1:p.Gly35fs, NP_001338897.1:p.Gly35fs, NP_001338899.1:p.Gly35fs

Select item 125905458518.

rs1259054585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:80997331 (GRCh38)
16:81030936 (GRCh37)
Canonical SPDI:: NC_000016.10:80997330:T:C
Gene:: CMC2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.80997331T>C, NC_000016.9:g.81030936T>C, NW_025791800.1:g.45570T>C, NM_020188.5:c.64A>G, NM_020188.4:c.64A>G, NM_020188.3:c.64A>G, NR_147838.2:n.338A>G, NR_147838.1:n.372A>G, NR_147839.2:n.251A>G, NR_147839.1:n.285A>G, NM_001351973.2:c.166A>G, NM_001351973.1:c.166A>G, NM_001351967.2:c.64A>G, NM_001351967.1:c.64A>G, NM_001351968.2:c.64A>G, NM_001351968.1:c.64A>G, NM_001351970.2:c.64A>G, NM_001351970.1:c.64A>G, NR_147840.2:n.251A>G, NR_147840.1:n.285A>G, NR_147841.2:n.251A>G, NR_147841.1:n.285A>G, NP_064573.1:p.Lys22Glu, NP_001338902.1:p.Lys56Glu, NP_001338896.1:p.Lys22Glu, NP_001338897.1:p.Lys22Glu, NP_001338899.1:p.Lys22Glu

Select item 125697349919.

rs1256973499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:80976157 (GRCh38)
16:81010054 (GRCh37)
Canonical SPDI:: NC_000016.10:80976156:C:A
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.80976157C>A, NC_000016.9:g.81010054C>A, NW_025791800.1:g.24396C>A, NM_020188.5:c.176G>T, NM_020188.4:c.176G>T, NM_020188.3:c.176G>T, NR_147838.2:n.560G>T, NR_147838.1:n.594G>T, NR_147839.2:n.461G>T, NR_147839.1:n.495G>T, NM_001351973.2:c.278G>T, NM_001351973.1:c.278G>T, NM_001351967.2:c.176G>T, NM_001351967.1:c.176G>T, NM_001351968.2:c.176G>T, NM_001351968.1:c.176G>T, NM_001351970.2:c.176G>T, NM_001351970.1:c.176G>T, NR_147840.2:n.401G>T, NR_147840.1:n.435G>T, NR_147843.2:n.175G>T, NR_147843.1:n.209G>T, NR_147841.2:n.291G>T, NR_147841.1:n.325G>T, NR_147842.2:n.247G>T, NR_147842.1:n.281G>T, NP_064573.1:p.Ser59Ile, NP_001338902.1:p.Ser93Ile, NP_001338896.1:p.Ser59Ile, NP_001338897.1:p.Ser59Ile, NP_001338899.1:p.Ser59Ile

Select item 123964044320.

rs1239640443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:80976153 (GRCh38)
16:81010050 (GRCh37)
Canonical SPDI:: NC_000016.10:80976152:C:T
Gene:: CMC2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.80976153C>T, NC_000016.9:g.81010050C>T, NW_025791800.1:g.24392C>T, NM_020188.5:c.180G>A, NM_020188.4:c.180G>A, NM_020188.3:c.180G>A, NR_147838.2:n.564G>A, NR_147838.1:n.598G>A, NR_147839.2:n.465G>A, NR_147839.1:n.499G>A, NM_001351973.2:c.282G>A, NM_001351973.1:c.282G>A, NM_001351967.2:c.180G>A, NM_001351967.1:c.180G>A, NM_001351968.2:c.180G>A, NM_001351968.1:c.180G>A, NM_001351970.2:c.180G>A, NM_001351970.1:c.180G>A, NR_147840.2:n.405G>A, NR_147840.1:n.439G>A, NR_147843.2:n.179G>A, NR_147843.1:n.213G>A, NR_147841.2:n.295G>A, NR_147841.1:n.329G>A, NR_147842.2:n.251G>A, NR_147842.1:n.285G>A

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Result Filters

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Items: 1 to 20 of 101

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