Canonical Allele Identifier: CA2470535706
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379713A= , CM000686.2:g.12379713A= GRCh38
NC_000024.9:g.14491516A= , CM000686.1:g.14491516A= GRCh37
NC_000024.8:g.13001524A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-964T= (GYG2P1)
ENST00000689264.1:n.402-964T= (GYG2P1)
ENST00000443820.2:n.989+1891A= (ARSDP1)
ENST00000651802.1:n.450+26671T= (GYG2P1)
ENST00000651835.1:n.319+27083T= (GYG2P1)
ENST00000382966.5:n.284-24942T= (GYG2P1)
ENST00000443820.1:n.438-2623A= (ARSDP1)
XR_001756061.1:n.609-964T=