Canonical Allele Identifier: CA645293932
Gene: GJC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 426207
ClinVar RCV Id: RCV000489273 RCV001814162 RCV002250639
dbSNP Id: rs1085307499
gnomAD v4: 1-228158727-G-GGC
MyVariant Identifiers: chr1:g.228346429_228346430dup (hg19) chr1:g.228158728_228158729dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158728_228158729dup , CM000663.2:g.228158728_228158729dup GRCh38
NC_000001.10:g.228346429_228346430dup , CM000663.1:g.228346429_228346430dup GRCh37
NC_000001.9:g.226413052_226413053dup NCBI36
NG_011838.1:g.13877_13878dup

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.970_971dup MANE Select ENSP00000355675.2:p.Ala325ProfsTer?
ENST00000366714.2:c.970_971dup ENSP00000355675.2:p.Ala325ProfsTer?
NM_020435.3:c.970_971dup NP_065168.2:p.Ala325ProfsTer?
NM_020435.4:c.970_971dup MANE Select NP_065168.2:p.Ala325ProfsTer?
Search 100 bp 5'
Search 100 bp 3'