Canonical Allele Identifier: CA337708158
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs112119188
gnomAD v3: Y-12088872-C-T
gnomAD v4: Y-12088872-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12088872C>T , CM000686.2:g.12088872C>T GRCh38
NC_000024.9:g.14209578C>T , CM000686.1:g.14209578C>T GRCh37
NC_000024.8:g.12719578C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.1341G>A