Canonical Allele Identifier: CA115335
Gene: GJC2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.228158572T>G
GRCh37 chr1:g.228346273T>G
Revel Score:
ENST00000366714 (MANE Select) 0.962
gnomAD v3:
1:228158572 T / G
gnomAD v4:
chr1-228158572-T-G
Joint Max Group AF 2.8e-7 (NFE)
ClinVar RCV:
RCV000002156
ClinVar Variation:
2075
dbSNP:
74315314
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158572T>G , CM000663.2:g.228158572T>G GRCh38
NC_000001.10:g.228346273T>G , CM000663.1:g.228346273T>G GRCh37
NC_000001.9:g.226412896T>G NCBI36
NG_011838.1:g.13721T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366714.3:c.814T>G MANE Select ENSP00000355675.2:p.Tyr272Asp
ENST00000366714.2:c.814T>G ENSP00000355675.2:p.Tyr272Asp
NM_020435.3:c.814T>G NP_065168.2:p.Tyr272Asp
NM_020435.4:c.814T>G MANE Select NP_065168.2:p.Tyr272Asp
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