Canonical Allele Identifier: CA1139218384
Gene: GYG2P1 HGNC NCBI

Linked Data

gnomAD v3: Y-12387403-C-G
gnomAD v4: Y-12387403-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12387403C>G , CM000686.2:g.12387403C>G GRCh38
NC_000024.9:g.14499198C>G , CM000686.1:g.14499198C>G GRCh37
NC_000024.8:g.13009206C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000382965.3:n.317-8654G>C
ENST00000689264.1:n.402-8654G>C
ENST00000651802.1:n.450+18981G>C
ENST00000651835.1:n.319+19393G>C
ENST00000382966.5:n.283+19393G>C
ENST00000493160.5:n.803-4073G>C
XR_001756061.1:n.609-8654G>C
Search 100 bp 5'
Search 100 bp 3'