Canonical Allele Identifier: CA6559167
Gene: AQP2 HGNC NCBI
COSMIC:
COSM431252 (not active)
MyVariant.info:
GRCh38 chr12:g.49951033A>C
GRCh37 chr12:g.50344816A>C
Revel Score:
ENST00000199280 (MANE Select) 0.911
ENST00000550862 0.911
gnomAD v2:
12:50344816 A / C
gnomAD v3:
12:49951033 A / C
gnomAD v4:
chr12-49951033-A-C
Joint Max Group AF 0.01681163 (AMR)
Genomes Max Group AF 0.00001174 (NFE)
Exomes Max Group AF 0.02291248 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951033A>C , CM000674.2:g.49951033A>C GRCh38
NC_000012.11:g.50344816A>C , CM000674.1:g.50344816A>C GRCh37
NC_000012.10:g.48631083A>C NCBI36
NG_008913.1:g.5293A>C , LRG_717:g.5293A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.203A>C MANE Select ENSP00000199280.3:p.Asn68Thr
ENST00000199280.3:c.203A>C ENSP00000199280.3:p.Asn68Thr
ENST00000550862.1:c.203A>C ENSP00000450022.1:p.Asn68Thr
ENST00000551526.5:c.203A>C ENSP00000447148.1:p.Asn68Thr
NM_000486.5:c.203A>C , LRG_717t1:c.203A>C NP_000477.1:p.Asn68Thr
NM_000486.6:c.203A>C MANE Select NP_000477.1:p.Asn68Thr
Search 100 bp 5'
Search 100 bp 3'