Canonical Allele Identifier: CA337712885
Gene: GYG2P1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12303320T>C , CM000686.2:g.12303320T>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000651802.1:n.451-61912A>G
ENST00000651835.1:n.320-45289A>G