Canonical Allele Identifier: CA2766238722
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384254G>T , CM000686.2:g.12384254G>T GRCh38
NC_000024.9:g.14496057G>T , CM000686.1:g.14496057G>T GRCh37
NC_000024.8:g.13006065G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-5505C>A (GYG2P1)
ENST00000689264.1:n.402-5505C>A (GYG2P1)
ENST00000443820.2:n.1287-55G>T (ARSDP1)
ENST00000651802.1:n.450+22130C>A (GYG2P1)
ENST00000651835.1:n.319+22542C>A (GYG2P1)
ENST00000382966.5:n.283+22542C>A (GYG2P1)
ENST00000443820.1:n.735-55G>T (ARSDP1)
ENST00000493160.5:n.803-924C>A (GYG2P1)
XR_001756061.1:n.609-5505C>A
Search 100 bp 5'
Search 100 bp 3'