Canonical Allele Identifier: CA337709477
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs112456534
gnomAD v3: Y-12144408-A-G
gnomAD v4: Y-12144408-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12144408A>G , CM000686.2:g.12144408A>G GRCh38
NC_000024.9:g.14265114A>G , CM000686.1:g.14265114A>G GRCh37
NC_000024.8:g.12775114A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.713-29095T>C