Canonical Allele Identifier: CA1139218389
Gene: GYG2P1 HGNC NCBI

Linked Data

gnomAD v3: Y-12387430-T-A
gnomAD v4: Y-12387430-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387430T>A , CM000686.2:g.12387430T>A GRCh38
NC_000024.9:g.14499225T>A , CM000686.1:g.14499225T>A GRCh37
NC_000024.8:g.13009233T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8681A>T
ENST00000689264.1:n.402-8681A>T
ENST00000651802.1:n.450+18954A>T
ENST00000651835.1:n.319+19366A>T
ENST00000382966.5:n.283+19366A>T
ENST00000493160.5:n.803-4100A>T
XR_001756061.1:n.609-8681A>T
Search 100 bp 5'
Search 100 bp 3'