Canonical Allele Identifier: CA1139224693
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs2053213962
gnomAD v3: Y-12303079-G-A
gnomAD v4: Y-12303079-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12303079G>A , CM000686.2:g.12303079G>A GRCh38
NC_000024.9:g.14423804G>A , CM000686.1:g.14423804G>A GRCh37
NC_000024.8:g.12933812G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.451-61671C>T
ENST00000651835.1:n.320-45048C>T