Canonical Allele Identifier: CA337710388
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs112361287
gnomAD v3: Y-12173838-G-A
gnomAD v4: Y-12173838-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12173838G>A , CM000686.2:g.12173838G>A GRCh38
NC_000024.9:g.14294544G>A , CM000686.1:g.14294544G>A GRCh37
NC_000024.8:g.12804544G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.712+29163C>T