Canonical Allele Identifier: CA6559247

Gene: AQP2 AQP5-AS1

Linked Data

• ClinVar Variation Id: 441134
• ClinVar RCV Id: RCV000778366 ; RCV001834644 ; RCV001377731
• dbSNP Id: rs770932012
• ExAC: 12:50348027 T / A
• gnomAD v2: 12-50348027-T-A
• gnomAD v4: 12-49954244-T-A
• MyVariant Identifiers: chr12:g.50348027T>A (hg19) ; chr12:g.49954244T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49954244T>A , CM000674.2:g.49954244T>A	GRCh38
NC_000012.11:g.50348027T>A , CM000674.1:g.50348027T>A	GRCh37
NC_000012.10:g.48634294T>A	NCBI36
NG_008913.1:g.8504T>A , LRG_717:g.8504T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.450T>A (AQP2) MANE Select	ENSP00000199280.3:p.Asp150Glu
ENST00000199280.3:c.450T>A (AQP2)	ENSP00000199280.3:p.Asp150Glu
ENST00000550862.1:c.450T>A (AQP2)	ENSP00000450022.1:p.Asp150Glu
ENST00000551526.5:c.450T>A (AQP2)	ENSP00000447148.1:p.Asp150Glu
NM_000486.5:c.450T>A , LRG_717t1:c.450T>A (AQP2)	NP_000477.1:p.Asp150Glu
NR_110590.1:n.361A>T (AQP5-AS1)
NR_110591.1:n.118-2156A>T (AQP5-AS1)
NM_000486.6:c.450T>A (AQP2) MANE Select	NP_000477.1:p.Asp150Glu