Canonical Allele Identifier: CA2470536107

Gene: GYG2P1 ARSDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12387195C= , CM000686.2:g.12387195C=	GRCh38
NC_000024.9:g.14498990C= , CM000686.1:g.14498990C=	GRCh37
NC_000024.8:g.13008998C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-8446G= (GYG2P1)
ENST00000689264.1:n.402-8446G= (GYG2P1)
ENST00000443820.2:n.1634C= (ARSDP1)
ENST00000651802.1:n.450+19189G= (GYG2P1)
ENST00000651835.1:n.319+19601G= (GYG2P1)
ENST00000382966.5:n.283+19601G= (GYG2P1)
ENST00000443820.1:n.1082C= (ARSDP1)
ENST00000493160.5:n.803-3865G= (GYG2P1)
XR_001756061.1:n.609-8446G=