Canonical Allele Identifier: CA10581381
Gene: GJC2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228157775G>A
GRCh37 chr1:g.228345476G>A
gnomAD v2:
1:228345476 G / A
gnomAD v3:
1:228157775 G / A
gnomAD v4:
chr1-228157775-G-A
Joint Max Group AF 0.00000645 (AFR)
Genomes Max Group AF 0.0000104 (AFR)
ClinVar RCV:
RCV000224295
ClinVar Variation:
235629
dbSNP:
878853083
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157775G>A , CM000663.2:g.228157775G>A GRCh38
NC_000001.10:g.228345476G>A , CM000663.1:g.228345476G>A GRCh37
NC_000001.9:g.226412099G>A NCBI36
NG_011838.1:g.12924G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.17G>A MANE Select ENSP00000355675.2:p.Trp6Ter
ENST00000366714.2:c.17G>A ENSP00000355675.2:p.Trp6Ter
NM_020435.3:c.17G>A NP_065168.2:p.Trp6Ter
NM_020435.4:c.17G>A MANE Select NP_065168.2:p.Trp6Ter
Search 100 bp 5'
Search 100 bp 3'