Canonical Allele Identifier: CA2618692591

Gene: AQP2 AQP5-AS1

Linked Data

• gnomAD v4: 12-49954325-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49954325T>C , CM000674.2:g.49954325T>C	GRCh38
NC_000012.11:g.50348108T>C , CM000674.1:g.50348108T>C	GRCh37
NC_000012.10:g.48634375T>C	NCBI36
NG_008913.1:g.8585T>C , LRG_717:g.8585T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000199280.4:c.525+6T>C (AQP2) MANE Select	ENSP00000199280.3:n.525+6T>C
ENST00000199280.3:c.525+6T>C (AQP2)	ENSP00000199280.3:n.525+6T>C
ENST00000550862.1:c.531T>C (AQP2)	ENSP00000450022.1:p.Gly177=
ENST00000551526.5:c.525+6T>C (AQP2)	ENSP00000447148.1:n.525+6T>C
NM_000486.5:c.525+6T>C , LRG_717t1:c.525+6T>C (AQP2)	NP_000477.1:n.525+6T>C
NR_110590.1:n.280A>G (AQP5-AS1)
NR_110591.1:n.118-2237A>G (AQP5-AS1)
NM_000486.6:c.525+6T>C (AQP2) MANE Select	NP_000477.1:n.525+6T>C