Canonical Allele Identifier: CA2824871462

Gene: GYG2P1 ARSDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384505G>T , CM000686.2:g.12384505G>T	GRCh38
NC_000024.9:g.14496300G>T , CM000686.1:g.14496300G>T	GRCh37
NC_000024.8:g.13006308G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5756C>A (GYG2P1)
ENST00000689264.1:n.402-5756C>A (GYG2P1)
ENST00000443820.2:n.1408+75G>T (ARSDP1)
ENST00000651802.1:n.450+21879C>A (GYG2P1)
ENST00000651835.1:n.319+22291C>A (GYG2P1)
ENST00000382966.5:n.283+22291C>A (GYG2P1)
ENST00000443820.1:n.856+75G>T (ARSDP1)
ENST00000493160.5:n.803-1175C>A (GYG2P1)
XR_001756061.1:n.609-5756C>A