Canonical Allele Identifier: CA2766238398
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12379715A>G , CM000686.2:g.12379715A>G GRCh38
NC_000024.9:g.14491518A>G , CM000686.1:g.14491518A>G GRCh37
NC_000024.8:g.13001526A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-966T>C (GYG2P1)
ENST00000689264.1:n.402-966T>C (GYG2P1)
ENST00000443820.2:n.989+1893A>G (ARSDP1)
ENST00000651802.1:n.450+26669T>C (GYG2P1)
ENST00000651835.1:n.319+27081T>C (GYG2P1)
ENST00000382966.5:n.284-24944T>C (GYG2P1)
ENST00000443820.1:n.438-2621A>G (ARSDP1)
XR_001756061.1:n.609-966T>C
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