Canonical Allele Identifier: CA423738678
Gene: GJC2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.228345679C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228157978C>T , CM000663.2:g.228157978C>T GRCh38
NC_000001.10:g.228345679C>T , CM000663.1:g.228345679C>T GRCh37
NC_000001.9:g.226412302C>T NCBI36
NG_011838.1:g.13127C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366714.3:c.220C>T MANE Select ENSP00000355675.2:p.Leu74=
ENST00000366714.2:c.220C>T ENSP00000355675.2:p.Leu74=
NM_020435.3:c.220C>T NP_065168.2:p.Leu74=
NM_020435.4:c.220C>T MANE Select NP_065168.2:p.Leu74=
Search 100 bp 5'
Search 100 bp 3'