Canonical Allele Identifier: CA337712300
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs748999323
gnomAD v3: Y-12271935-T-A
gnomAD v4: Y-12271935-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12271935T>A , CM000686.2:g.12271935T>A GRCh38
NC_000024.9:g.14392639T>A , CM000686.1:g.14392639T>A GRCh37
NC_000024.8:g.12902646T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.451-30527A>T
ENST00000651835.1:n.320-13904A>T