Canonical Allele Identifier: CA2470535980

Gene: GYG2P1 ARSDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384646G= , CM000686.2:g.12384646G=	GRCh38
NC_000024.9:g.14496441G= , CM000686.1:g.14496441G=	GRCh37
NC_000024.8:g.13006449G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5897C= (GYG2P1)
ENST00000689264.1:n.402-5897C= (GYG2P1)
ENST00000443820.2:n.1408+216G= (ARSDP1)
ENST00000651802.1:n.450+21738C= (GYG2P1)
ENST00000651835.1:n.319+22150C= (GYG2P1)
ENST00000382966.5:n.283+22150C= (GYG2P1)
ENST00000443820.1:n.856+216G= (ARSDP1)
ENST00000493160.5:n.803-1316C= (GYG2P1)
XR_001756061.1:n.609-5897C=