Canonical Allele Identifier: CA2766238858

Gene: GYG2P1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12387428C>A , CM000686.2:g.12387428C>A	GRCh38
NC_000024.9:g.14499223C>A , CM000686.1:g.14499223C>A	GRCh37
NC_000024.8:g.13009231C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-8679G>T
ENST00000689264.1:n.402-8679G>T
ENST00000651802.1:n.450+18956G>T
ENST00000651835.1:n.319+19368G>T
ENST00000382966.5:n.283+19368G>T
ENST00000493160.5:n.803-4098G>T
XR_001756061.1:n.609-8679G>T