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.

ClinGen Allele Registry

Canonical Allele Identifier: CA127484

Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17839

ClinVar RCV Id: RCV000019417

dbSNP Id: rs104894337

MyVariant Identifiers: chr12:g.50348430C>G (hg19) chr12:g.49954647C>G (hg38)

PubMed: PMID:9302264

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49954647C>G , CM000674.2:g.49954647C>G	GRCh38
NC_000012.11:g.50348430C>G , CM000674.1:g.50348430C>G	GRCh37
NC_000012.10:g.48634697C>G	NCBI36
NG_008913.1:g.8907C>G , LRG_717:g.8907C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000199280.4:c.543C>G (AQP2) MANE Select	ENSP00000199280.3:p.Cys181Trp
ENST00000199280.3:c.543C>G (AQP2)	ENSP00000199280.3:p.Cys181Trp
ENST00000550862.1:c.669C>G (AQP2)	ENSP00000450022.1:p.Cys223Trp
ENST00000551526.5:c.543C>G (AQP2)	ENSP00000447148.1:p.Cys181Trp
NM_000486.5:c.543C>G , LRG_717t1:c.543C>G (AQP2)	NP_000477.1:p.Cys181Trp
NR_110590.1:n.257-299G>C (AQP5-AS1)
NR_110591.1:n.118-2559G>C (AQP5-AS1)
NM_000486.6:c.543C>G (AQP2) MANE Select	NP_000477.1:p.Cys181Trp