Canonical Allele Identifier: CA2766238844
Gene: GYG2P1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387364G>T , CM000686.2:g.12387364G>T GRCh38
NC_000024.9:g.14499159G>T , CM000686.1:g.14499159G>T GRCh37
NC_000024.8:g.13009167G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8615C>A
ENST00000689264.1:n.402-8615C>A
ENST00000651802.1:n.450+19020C>A
ENST00000651835.1:n.319+19432C>A
ENST00000382966.5:n.283+19432C>A
ENST00000493160.5:n.803-4034C>A
XR_001756061.1:n.609-8615C>A
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