Canonical Allele Identifier: CA144622
Gene: GJC2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228158545G>A
GRCh37 chr1:g.228346246G>A
Revel Score:
ENST00000366714 (MANE Select) 0.963
ClinVar RCV:
RCV000054496
ClinVar Variation:
60683
dbSNP:
397514734
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158545G>A , CM000663.2:g.228158545G>A GRCh38
NC_000001.10:g.228346246G>A , CM000663.1:g.228346246G>A GRCh37
NC_000001.9:g.226412869G>A NCBI36
NG_011838.1:g.13694G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.787G>A MANE Select ENSP00000355675.2:p.Glu263Lys
ENST00000366714.2:c.787G>A ENSP00000355675.2:p.Glu263Lys
NM_020435.3:c.787G>A NP_065168.2:p.Glu263Lys
NM_020435.4:c.787G>A MANE Select NP_065168.2:p.Glu263Lys
Search 100 bp 5'
Search 100 bp 3'