Canonical Allele Identifier: CA2470535987
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384693C= , CM000686.2:g.12384693C= GRCh38
NC_000024.9:g.14496488C= , CM000686.1:g.14496488C= GRCh37
NC_000024.8:g.13006496C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-5944G= (GYG2P1)
ENST00000689264.1:n.402-5944G= (GYG2P1)
ENST00000443820.2:n.1408+263C= (ARSDP1)
ENST00000651802.1:n.450+21691G= (GYG2P1)
ENST00000651835.1:n.319+22103G= (GYG2P1)
ENST00000382966.5:n.283+22103G= (GYG2P1)
ENST00000443820.1:n.856+263C= (ARSDP1)
ENST00000493160.5:n.803-1363G= (GYG2P1)
XR_001756061.1:n.609-5944G=