Canonical Allele Identifier: CA479584107
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49950998-A-T
MyVariant Identifiers: chr12:g.50344781A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950998A>T , CM000674.2:g.49950998A>T GRCh38
NC_000012.11:g.50344781A>T , CM000674.1:g.50344781A>T GRCh37
NC_000012.10:g.48631048A>T NCBI36
NG_008913.1:g.5258A>T , LRG_717:g.5258A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.168A>T MANE Select ENSP00000199280.3:p.Val56=
ENST00000199280.3:c.168A>T ENSP00000199280.3:p.Val56=
ENST00000550862.1:c.168A>T ENSP00000450022.1:p.Val56=
ENST00000551526.5:c.168A>T ENSP00000447148.1:p.Val56=
NM_000486.5:c.168A>T , LRG_717t1:c.168A>T NP_000477.1:p.Val56=
NM_000486.6:c.168A>T MANE Select NP_000477.1:p.Val56=
Search 100 bp 5'
Search 100 bp 3'