Canonical Allele Identifier: CA2766238668
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12383424G>C , CM000686.2:g.12383424G>C GRCh38
NC_000024.9:g.14495227G>C , CM000686.1:g.14495227G>C GRCh37
NC_000024.8:g.13005235G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-4675C>G (GYG2P1)
ENST00000689264.1:n.402-4675C>G (GYG2P1)
ENST00000443820.2:n.1286+121G>C (ARSDP1)
ENST00000651802.1:n.450+22960C>G (GYG2P1)
ENST00000651835.1:n.319+23372C>G (GYG2P1)
ENST00000382966.5:n.283+23372C>G (GYG2P1)
ENST00000443820.1:n.734+121G>C (ARSDP1)
ENST00000493160.5:n.803-94C>G (GYG2P1)
XR_001756061.1:n.609-4675C>G
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