Canonical Allele Identifier: CA1139224716
Gene: GYG2P1 HGNC NCBI

Linked Data

gnomAD v3: Y-12303186-T-C
gnomAD v4: Y-12303186-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12303186T>C , CM000686.2:g.12303186T>C GRCh38
NC_000024.9:g.14423911T>C , CM000686.1:g.14423911T>C GRCh37
NC_000024.8:g.12933919T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.451-61778A>G
ENST00000651835.1:n.320-45155A>G