Canonical Allele Identifier: CA732478079
Gene: GJC2 HGNC NCBI

Linked Data

dbSNP Id: rs1295375282
gnomAD v3: 1-228158093-GCGCCCTCCGCCGCCGCCCGGGGCCA-G
gnomAD v4: 1-228158093-GCGCCCTCCGCCGCCGCCCGGGGCCA-G
MyVariant Identifiers: chr1:g.228345795_228345819del (hg19) chr1:g.228158094_228158118del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228158098_228158122del , CM000663.2:g.228158098_228158122del GRCh38
NC_000001.10:g.228345799_228345823del , CM000663.1:g.228345799_228345823del GRCh37
NC_000001.9:g.226412422_226412446del NCBI36
NG_011838.1:g.13247_13271del

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.340_364del MANE Select ENSP00000355675.2:p.Leu114AlafsTer?
ENST00000366714.2:c.340_364del ENSP00000355675.2:p.Leu114AlafsTer?
NM_020435.3:c.340_364del NP_065168.2:p.Leu114AlafsTer?
NM_020435.4:c.340_364del MANE Select NP_065168.2:p.Leu114AlafsTer?
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