Canonical Allele Identifier: CA337711347
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs112013438
gnomAD v3: Y-12208143-C-T
gnomAD v4: Y-12208143-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12208143C>T , CM000686.2:g.12208143C>T GRCh38
NC_000024.9:g.14328849C>T , CM000686.1:g.14328849C>T GRCh37
NC_000024.8:g.12838849C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.587+2022G>A
ENST00000651835.1:n.630-1560G>A