Canonical Allele Identifier: CA337710195
Gene: GYG2P1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12168275G>A , CM000686.2:g.12168275G>A GRCh38
NC_000024.9:g.14288981G>A , CM000686.1:g.14288981G>A GRCh37
NC_000024.8:g.12798981G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651802.1:n.712+34726C>T