Canonical Allele Identifier: CA2618692590
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI

Linked Data

gnomAD v4: 12-49954322-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49954322A>G , CM000674.2:g.49954322A>G GRCh38
NC_000012.11:g.50348105A>G , CM000674.1:g.50348105A>G GRCh37
NC_000012.10:g.48634372A>G NCBI36
NG_008913.1:g.8582A>G , LRG_717:g.8582A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.525+3A>G (AQP2) MANE Select ENSP00000199280.3:n.525+3A>G
ENST00000199280.3:c.525+3A>G (AQP2) ENSP00000199280.3:n.525+3A>G
ENST00000550862.1:c.528A>G (AQP2) ENSP00000450022.1:p.Val176=
ENST00000551526.5:c.525+3A>G (AQP2) ENSP00000447148.1:n.525+3A>G
NM_000486.5:c.525+3A>G , LRG_717t1:c.525+3A>G (AQP2) NP_000477.1:n.525+3A>G
NR_110590.1:n.283T>C (AQP5-AS1)
NR_110591.1:n.118-2234T>C (AQP5-AS1)
NM_000486.6:c.525+3A>G (AQP2) MANE Select NP_000477.1:n.525+3A>G
Search 100 bp 5'
Search 100 bp 3'