Canonical Allele Identifier: CA479583863

Gene: AQP2

Linked Data

• ClinVar Variation Id: 1386212
• ClinVar RCV Id: RCV001875243
• dbSNP Id: rs2137144229
• MyVariant Identifiers: chr12:g.50344730C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49950947C>T , CM000674.2:g.49950947C>T	GRCh38
NC_000012.11:g.50344730C>T , CM000674.1:g.50344730C>T	GRCh37
NC_000012.10:g.48630997C>T	NCBI36
NG_008913.1:g.5207C>T , LRG_717:g.5207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000199280.4:c.117C>T MANE Select	ENSP00000199280.3:p.Pro39=
ENST00000199280.3:c.117C>T	ENSP00000199280.3:p.Pro39=
ENST00000550862.1:c.117C>T	ENSP00000450022.1:p.Pro39=
ENST00000551526.5:c.117C>T	ENSP00000447148.1:p.Pro39=
NM_000486.5:c.117C>T , LRG_717t1:c.117C>T	NP_000477.1:p.Pro39=
NM_000486.6:c.117C>T MANE Select	NP_000477.1:p.Pro39=