Canonical Allele Identifier: CA384774142

Gene: AQP2 AQP5-AS1

Linked Data

• gnomAD v4: 12-49954324-G-A
• MyVariant Identifiers: chr12:g.50348107G>A (hg19) ; chr12:g.49954324G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49954324G>A , CM000674.2:g.49954324G>A	GRCh38
NC_000012.11:g.50348107G>A , CM000674.1:g.50348107G>A	GRCh37
NC_000012.10:g.48634374G>A	NCBI36
NG_008913.1:g.8584G>A , LRG_717:g.8584G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000199280.4:c.525+5G>A (AQP2) MANE Select	ENSP00000199280.3:n.525+5G>A
ENST00000199280.3:c.525+5G>A (AQP2)	ENSP00000199280.3:n.525+5G>A
ENST00000550862.1:c.530G>A (AQP2)	ENSP00000450022.1:p.Gly177Asp
ENST00000551526.5:c.525+5G>A (AQP2)	ENSP00000447148.1:n.525+5G>A
NM_000486.5:c.525+5G>A , LRG_717t1:c.525+5G>A (AQP2)	NP_000477.1:n.525+5G>A
NR_110590.1:n.281C>T (AQP5-AS1)
NR_110591.1:n.118-2236C>T (AQP5-AS1)
NM_000486.6:c.525+5G>A (AQP2) MANE Select	NP_000477.1:n.525+5G>A