Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA1139228392

Gene: GYG2P1 HGNC NCBI

Linked Data

dbSNP Id: rs2053217304

gnomAD v3: Y-12312281-C-G

gnomAD v4: Y-12312281-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.12312281C>G , CM000686.2:g.12312281C>G	GRCh38
NC_000024.9:g.14433008C>G , CM000686.1:g.14433008C>G	GRCh37
NC_000024.8:g.12943016C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651802.1:n.451-70873G>C
ENST00000651835.1:n.320-54250G>C

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