Canonical Allele Identifier: CA2558327083

Gene: GYG2P1 ARSDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12385375G>A , CM000686.2:g.12385375G>A	GRCh38
NC_000024.9:g.14497170G>A , CM000686.1:g.14497170G>A	GRCh37
NC_000024.8:g.13007178G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-6626C>T (GYG2P1)
ENST00000689264.1:n.402-6626C>T (GYG2P1)
ENST00000443820.2:n.1408+945G>A (ARSDP1)
ENST00000651802.1:n.450+21009C>T (GYG2P1)
ENST00000651835.1:n.319+21421C>T (GYG2P1)
ENST00000382966.5:n.283+21421C>T (GYG2P1)
ENST00000443820.1:n.856+945G>A (ARSDP1)
ENST00000493160.5:n.803-2045C>T (GYG2P1)
XR_001756061.1:n.609-6626C>T