Canonical Allele Identifier: CA337714094
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs757940095
gnomAD v3: Y-12387370-G-A
gnomAD v4: Y-12387370-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387370G>A , CM000686.2:g.12387370G>A GRCh38
NC_000024.9:g.14499165G>A , CM000686.1:g.14499165G>A GRCh37
NC_000024.8:g.13009173G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8621C>T
ENST00000689264.1:n.402-8621C>T
ENST00000651802.1:n.450+19014C>T
ENST00000651835.1:n.319+19426C>T
ENST00000382966.5:n.283+19426C>T
ENST00000493160.5:n.803-4040C>T
XR_001756061.1:n.609-8621C>T