Canonical Allele Identifier: CA2842437302

Gene: AQP2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49950837dup , CM000674.2:g.49950837dup	GRCh38
NC_000012.11:g.50344620dup , CM000674.1:g.50344620dup	GRCh37
NC_000012.10:g.48630887dup	NCBI36
NG_008913.1:g.5097dup , LRG_717:g.5097dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.7dup MANE Select	ENSP00000199280.3:p.Glu3GlyfsTer?
ENST00000199280.3:c.7dup	ENSP00000199280.3:p.Glu3GlyfsTer?
ENST00000550862.1:c.7dup	ENSP00000450022.1:p.Glu3GlyfsTer?
ENST00000551526.5:c.7dup	ENSP00000447148.1:p.Glu3GlyfsTer?
NM_000486.5:c.7dup , LRG_717t1:c.7dup	NP_000477.1:p.Glu3GlyfsTer?
NM_000486.6:c.7dup MANE Select	NP_000477.1:p.Glu3GlyfsTer?