Canonical Allele Identifier: CA384772535

Gene: AQP2

Linked Data

• MyVariant Identifiers: chr12:g.50344975T>G (hg19) ; chr12:g.49951192T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49951192T>G , CM000674.2:g.49951192T>G	GRCh38
NC_000012.11:g.50344975T>G , CM000674.1:g.50344975T>G	GRCh37
NC_000012.10:g.48631242T>G	NCBI36
NG_008913.1:g.5452T>G , LRG_717:g.5452T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.360+2T>G MANE Select	ENSP00000199280.3:n.360+2T>G
ENST00000199280.3:c.360+2T>G	ENSP00000199280.3:n.360+2T>G
ENST00000550862.1:c.360+2T>G	ENSP00000450022.1:n.360+2T>G
ENST00000551526.5:c.360+2T>G	ENSP00000447148.1:n.360+2T>G
NM_000486.5:c.360+2T>G , LRG_717t1:c.360+2T>G	NP_000477.1:n.360+2T>G
NM_000486.6:c.360+2T>G MANE Select	NP_000477.1:n.360+2T>G