Canonical Allele Identifier: CA2766238714
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384236G>A , CM000686.2:g.12384236G>A GRCh38
NC_000024.9:g.14496039G>A , CM000686.1:g.14496039G>A GRCh37
NC_000024.8:g.13006047G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-5487C>T (GYG2P1)
ENST00000689264.1:n.402-5487C>T (GYG2P1)
ENST00000443820.2:n.1287-73G>A (ARSDP1)
ENST00000651802.1:n.450+22148C>T (GYG2P1)
ENST00000651835.1:n.319+22560C>T (GYG2P1)
ENST00000382966.5:n.283+22560C>T (GYG2P1)
ENST00000443820.1:n.735-73G>A (ARSDP1)
ENST00000493160.5:n.803-906C>T (GYG2P1)
XR_001756061.1:n.609-5487C>T
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