Canonical Allele Identifier: CA6559188

Gene: AQP2

Linked Data

• ClinVar Variation Id: 446861
• ClinVar RCV Id: RCV000517234 ; RCV001274489 ; RCV001329305
• dbSNP Id: rs770810694
• ExAC: 12:50344890 C / T
• gnomAD v2: 12-50344890-C-T
• gnomAD v3: 12-49951107-C-T
• gnomAD v4: 12-49951107-C-T
• MyVariant Identifiers: chr12:g.50344890C>T (hg19) ; chr12:g.49951107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49951107C>T , CM000674.2:g.49951107C>T	GRCh38
NC_000012.11:g.50344890C>T , CM000674.1:g.50344890C>T	GRCh37
NC_000012.10:g.48631157C>T	NCBI36
NG_008913.1:g.5367C>T , LRG_717:g.5367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.277C>T MANE Select	ENSP00000199280.3:p.Gln93Ter
ENST00000199280.3:c.277C>T	ENSP00000199280.3:p.Gln93Ter
ENST00000550862.1:c.277C>T	ENSP00000450022.1:p.Gln93Ter
ENST00000551526.5:c.277C>T	ENSP00000447148.1:p.Gln93Ter
NM_000486.5:c.277C>T , LRG_717t1:c.277C>T	NP_000477.1:p.Gln93Ter
NM_000486.6:c.277C>T MANE Select	NP_000477.1:p.Gln93Ter