Canonical Allele Identifier: CA1139218367
Gene: GYG2P1 HGNC NCBI

Linked Data

gnomAD v3: Y-12387369-C-T
gnomAD v4: Y-12387369-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387369C>T , CM000686.2:g.12387369C>T GRCh38
NC_000024.9:g.14499164C>T , CM000686.1:g.14499164C>T GRCh37
NC_000024.8:g.13009172C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8620G>A
ENST00000689264.1:n.402-8620G>A
ENST00000651802.1:n.450+19015G>A
ENST00000651835.1:n.319+19427G>A
ENST00000382966.5:n.283+19427G>A
ENST00000493160.5:n.803-4039G>A
XR_001756061.1:n.609-8620G>A
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