Canonical Allele Identifier: CA384772529

Gene: AQP2

Linked Data

• gnomAD v4: 12-49951191-G-T
• MyVariant Identifiers: chr12:g.50344974G>T (hg19) ; chr12:g.49951191G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49951191G>T , CM000674.2:g.49951191G>T	GRCh38
NC_000012.11:g.50344974G>T , CM000674.1:g.50344974G>T	GRCh37
NC_000012.10:g.48631241G>T	NCBI36
NG_008913.1:g.5451G>T , LRG_717:g.5451G>T

Transcript Alleles

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