Canonical Allele Identifier: CA6559143

Gene: AQP2

Linked Data

• ClinVar Variation Id: 446862
• ClinVar RCV Id: RCV000518476 ; RCV002490878
• dbSNP Id: rs772201159
• ExAC: 12:50344701 TCTGCCCTCAACTGGCCACAGGCC / T
• gnomAD v2: 12-50344701-TCTGCCCTCAACTGGCCACAGGCC-T
• gnomAD v4: 12-49950918-TCTGCCCTCAACTGGCCACAGGCC-T
• MyVariant Identifiers: chr12:g.50344710_50344732del (hg19) ; chr12:g.50344702_50344724del (hg19) ; chr12:g.49950927_49950949del (hg38) ; chr12:g.49950919_49950941del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49950927_49950949del , CM000674.2:g.49950927_49950949del	GRCh38
NC_000012.11:g.50344710_50344732del , CM000674.1:g.50344710_50344732del	GRCh37
NC_000012.10:g.48630977_48630999del	NCBI36
NG_008913.1:g.5187_5209del , LRG_717:g.5187_5209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.97_119del MANE Select	ENSP00000199280.3:p.Asn33CysfsTer?
ENST00000199280.3:c.97_119del	ENSP00000199280.3:p.Asn33CysfsTer?
ENST00000550862.1:c.97_119del	ENSP00000450022.1:p.Asn33CysfsTer?
ENST00000551526.5:c.97_119del	ENSP00000447148.1:p.Asn33CysfsTer?
NM_000486.5:c.97_119del , LRG_717t1:c.97_119del	NP_000477.1:p.Asn33CysfsTer?
NM_000486.6:c.97_119del MANE Select	NP_000477.1:p.Asn33CysfsTer?