Canonical Allele Identifier: CA337712965
Gene: GYG2P1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12312201G>A , CM000686.2:g.12312201G>A GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000651802.1:n.451-70793C>T
ENST00000651835.1:n.320-54170C>T