Canonical Allele Identifier: CA2837574335

Gene: GYG2P1 ARSDP1

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12384578A>G , CM000686.2:g.12384578A>G	GRCh38
NC_000024.9:g.14496373A>G , CM000686.1:g.14496373A>G	GRCh37
NC_000024.8:g.13006381A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382965.3:n.317-5829T>C (GYG2P1)
ENST00000689264.1:n.402-5829T>C (GYG2P1)
ENST00000443820.2:n.1408+148A>G (ARSDP1)
ENST00000651802.1:n.450+21806T>C (GYG2P1)
ENST00000651835.1:n.319+22218T>C (GYG2P1)
ENST00000382966.5:n.283+22218T>C (GYG2P1)
ENST00000443820.1:n.856+148A>G (ARSDP1)
ENST00000493160.5:n.803-1248T>C (GYG2P1)
XR_001756061.1:n.609-5829T>C