Canonical Allele Identifier: CA2766238854
Gene: GYG2P1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387409C>A , CM000686.2:g.12387409C>A GRCh38
NC_000024.9:g.14499204C>A , CM000686.1:g.14499204C>A GRCh37
NC_000024.8:g.13009212C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8660G>T
ENST00000689264.1:n.402-8660G>T
ENST00000651802.1:n.450+18975G>T
ENST00000651835.1:n.319+19387G>T
ENST00000382966.5:n.283+19387G>T
ENST00000493160.5:n.803-4079G>T
XR_001756061.1:n.609-8660G>T