Canonical Allele Identifier: CA345099206
Gene: GJC2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228158491T>A
GRCh37 chr1:g.228346192T>A
Revel Score:
ENST00000366714 (MANE Select) 0.959
ClinVar RCV:
RCV001249464
ClinVar Variation:
872979
dbSNP:
1571908056
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158491T>A , CM000663.2:g.228158491T>A GRCh38
NC_000001.10:g.228346192T>A , CM000663.1:g.228346192T>A GRCh37
NC_000001.9:g.226412815T>A NCBI36
NG_011838.1:g.13640T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.733T>A MANE Select ENSP00000355675.2:p.Cys245Ser
ENST00000366714.2:c.733T>A ENSP00000355675.2:p.Cys245Ser
NM_020435.3:c.733T>A NP_065168.2:p.Cys245Ser
NM_020435.4:c.733T>A MANE Select NP_065168.2:p.Cys245Ser
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