Canonical Allele Identifier: CA2766238717
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384244A>G , CM000686.2:g.12384244A>G GRCh38
NC_000024.9:g.14496047A>G , CM000686.1:g.14496047A>G GRCh37
NC_000024.8:g.13006055A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-5495T>C (GYG2P1)
ENST00000689264.1:n.402-5495T>C (GYG2P1)
ENST00000443820.2:n.1287-65A>G (ARSDP1)
ENST00000651802.1:n.450+22140T>C (GYG2P1)
ENST00000651835.1:n.319+22552T>C (GYG2P1)
ENST00000382966.5:n.283+22552T>C (GYG2P1)
ENST00000443820.1:n.735-65A>G (ARSDP1)
ENST00000493160.5:n.803-914T>C (GYG2P1)
XR_001756061.1:n.609-5495T>C
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