Canonical Allele Identifier: CA1139211817
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs2053200470
gnomAD v3: Y-12272291-C-T
gnomAD v4: Y-12272291-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12272291C>T , CM000686.2:g.12272291C>T GRCh38
NC_000024.9:g.14392995C>T , CM000686.1:g.14392995C>T GRCh37
NC_000024.8:g.12903002C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651802.1:n.451-30883G>A
ENST00000651835.1:n.320-14260G>A
Search 100 bp 5'
Search 100 bp 3'