Canonical Allele Identifier: CA2766238477
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379883G>A , CM000686.2:g.12379883G>A GRCh38
NC_000024.9:g.14491686G>A , CM000686.1:g.14491686G>A GRCh37
NC_000024.8:g.13001694G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-1134C>T (GYG2P1)
ENST00000689264.1:n.402-1134C>T (GYG2P1)
ENST00000443820.2:n.989+2061G>A (ARSDP1)
ENST00000651802.1:n.450+26501C>T (GYG2P1)
ENST00000651835.1:n.319+26913C>T (GYG2P1)
ENST00000382966.5:n.284-25112C>T (GYG2P1)
ENST00000443820.1:n.438-2453G>A (ARSDP1)
XR_001756061.1:n.609-1134C>T
Search 100 bp 5'
Search 100 bp 3'