Canonical Allele Identifier: CA1139211805
Gene: GYG2P1 HGNC NCBI

Linked Data

gnomAD v3: Y-12272217-A-G
gnomAD v4: Y-12272217-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12272217A>G , CM000686.2:g.12272217A>G GRCh38
NC_000024.9:g.14392921A>G , CM000686.1:g.14392921A>G GRCh37
NC_000024.8:g.12902928A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.451-30809T>C
ENST00000651835.1:n.320-14186T>C