Canonical Allele Identifier: CA2470535954
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384234A= , CM000686.2:g.12384234A= GRCh38
NC_000024.9:g.14496037A= , CM000686.1:g.14496037A= GRCh37
NC_000024.8:g.13006045A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-5485T= (GYG2P1)
ENST00000689264.1:n.402-5485T= (GYG2P1)
ENST00000443820.2:n.1287-75A= (ARSDP1)
ENST00000651802.1:n.450+22150T= (GYG2P1)
ENST00000651835.1:n.319+22562T= (GYG2P1)
ENST00000382966.5:n.283+22562T= (GYG2P1)
ENST00000443820.1:n.735-75A= (ARSDP1)
ENST00000493160.5:n.803-904T= (GYG2P1)
XR_001756061.1:n.609-5485T=