Canonical Allele Identifier: CA2766238681
Gene: GYG2P1 HGNC NCBI
ARSDP1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12383451T>G , CM000686.2:g.12383451T>G GRCh38
NC_000024.9:g.14495254T>G , CM000686.1:g.14495254T>G GRCh37
NC_000024.8:g.13005262T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-4702A>C (GYG2P1)
ENST00000689264.1:n.402-4702A>C (GYG2P1)
ENST00000443820.2:n.1286+148T>G (ARSDP1)
ENST00000651802.1:n.450+22933A>C (GYG2P1)
ENST00000651835.1:n.319+23345A>C (GYG2P1)
ENST00000382966.5:n.283+23345A>C (GYG2P1)
ENST00000443820.1:n.734+148T>G (ARSDP1)
ENST00000493160.5:n.803-121A>C (GYG2P1)
XR_001756061.1:n.609-4702A>C
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