Canonical Allele Identifier: CA2766238724
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12384256C>T , CM000686.2:g.12384256C>T GRCh38
NC_000024.9:g.14496059C>T , CM000686.1:g.14496059C>T GRCh37
NC_000024.8:g.13006067C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000382965.3:n.317-5507G>A (GYG2P1)
ENST00000689264.1:n.402-5507G>A (GYG2P1)
ENST00000443820.2:n.1287-53C>T (ARSDP1)
ENST00000651802.1:n.450+22128G>A (GYG2P1)
ENST00000651835.1:n.319+22540G>A (GYG2P1)
ENST00000382966.5:n.283+22540G>A (GYG2P1)
ENST00000443820.1:n.735-53C>T (ARSDP1)
ENST00000493160.5:n.803-926G>A (GYG2P1)
XR_001756061.1:n.609-5507G>A
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