Canonical Allele Identifier: CA1139211814
Gene: GYG2P1 HGNC NCBI

Linked Data

gnomAD v3: Y-12272274-C-T
gnomAD v4: Y-12272274-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12272274C>T , CM000686.2:g.12272274C>T GRCh38
NC_000024.9:g.14392978C>T , CM000686.1:g.14392978C>T GRCh37
NC_000024.8:g.12902985C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.451-30866G>A
ENST00000651835.1:n.320-14243G>A
Search 100 bp 5'
Search 100 bp 3'