Canonical Allele Identifier: CA1139218412

Gene: GYG2P1

Linked Data

• gnomAD v3: Y-12387442-A-G
• gnomAD v4: Y-12387442-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12387442A>G , CM000686.2:g.12387442A>G	GRCh38
NC_000024.9:g.14499237A>G , CM000686.1:g.14499237A>G	GRCh37
NC_000024.8:g.13009245A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-8693T>C
ENST00000689264.1:n.402-8693T>C
ENST00000651802.1:n.450+18942T>C
ENST00000651835.1:n.319+19354T>C
ENST00000382966.5:n.283+19354T>C
ENST00000493160.5:n.803-4112T>C
XR_001756061.1:n.609-8693T>C