Canonical Allele Identifier: CA384772190
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49951077-G-C
MyVariant Identifiers: chr12:g.50344860G>C (hg19) chr12:g.49951077G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951077G>C , CM000674.2:g.49951077G>C GRCh38
NC_000012.11:g.50344860G>C , CM000674.1:g.50344860G>C GRCh37
NC_000012.10:g.48631127G>C NCBI36
NG_008913.1:g.5337G>C , LRG_717:g.5337G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.247G>C MANE Select ENSP00000199280.3:p.Val83Leu
ENST00000199280.3:c.247G>C ENSP00000199280.3:p.Val83Leu
ENST00000550862.1:c.247G>C ENSP00000450022.1:p.Val83Leu
ENST00000551526.5:c.247G>C ENSP00000447148.1:p.Val83Leu
NM_000486.5:c.247G>C , LRG_717t1:c.247G>C NP_000477.1:p.Val83Leu
NM_000486.6:c.247G>C MANE Select NP_000477.1:p.Val83Leu
Search 100 bp 5'
Search 100 bp 3'