Canonical Allele Identifier: CA337712305
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs1011954
gnomAD v3: Y-12272103-T-C
gnomAD v4: Y-12272103-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12272103T>C , CM000686.2:g.12272103T>C GRCh38
NC_000024.9:g.14392807T>C , CM000686.1:g.14392807T>C GRCh37
NC_000024.8:g.12902814T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.451-30695A>G
ENST00000651835.1:n.320-14072A>G