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: CA983177627

Gene: ASIC2 HGNC NCBI

Linked Data

dbSNP Id: rs1905518706

gnomAD v3: 17-33979306-C-T

gnomAD v4: 17-33979306-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.33979306C>T , CM000679.2:g.33979306C>T	GRCh38
NC_000017.10:g.32306325C>T , CM000679.1:g.32306325C>T	GRCh37
NC_000017.9:g.29330438C>T	NCBI36
NG_029763.1:g.182501G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359872.6:c.555+176672G>A	ENSP00000352934.6:n.555+176672G>A
NM_001094.4:c.555+176672G>A	NP_001085.2:n.555+176672G>A
XR_001752840.1:n.404+7839G>A
NM_001094.5:c.555+176672G>A	NP_001085.2:n.555+176672G>A

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