Canonical Allele Identifier: CA1139211643
Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs2053200227
gnomAD v3: Y-12272019-CT-C
gnomAD v4: Y-12272019-CT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12272030del , CM000686.2:g.12272030del GRCh38
NC_000024.9:g.14392734del , CM000686.1:g.14392734del GRCh37
NC_000024.8:g.12902741del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651802.1:n.451-30612del
ENST00000651835.1:n.320-13989del
Search 100 bp 5'
Search 100 bp 3'