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: CA983177688

Gene: ASIC2 HGNC NCBI

Linked Data

dbSNP Id: rs1399345048

gnomAD v3: 17-33979449-C-G

gnomAD v4: 17-33979449-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.33979449C>G , CM000679.2:g.33979449C>G	GRCh38
NC_000017.10:g.32306468C>G , CM000679.1:g.32306468C>G	GRCh37
NC_000017.9:g.29330581C>G	NCBI36
NG_029763.1:g.182358G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359872.6:c.555+176529G>C	ENSP00000352934.6:n.555+176529G>C
NM_001094.4:c.555+176529G>C	NP_001085.2:n.555+176529G>C
XR_001752840.1:n.404+7696G>C
NM_001094.5:c.555+176529G>C	NP_001085.2:n.555+176529G>C

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