Canonical Allele Identifier: CA384771735
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49950930-T-C
MyVariant Identifiers: chr12:g.50344713T>C (hg19) chr12:g.49950930T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950930T>C , CM000674.2:g.49950930T>C GRCh38
NC_000012.11:g.50344713T>C , CM000674.1:g.50344713T>C GRCh37
NC_000012.10:g.48630980T>C NCBI36
NG_008913.1:g.5190T>C , LRG_717:g.5190T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.100T>C MANE Select ENSP00000199280.3:p.Trp34Arg
ENST00000199280.3:c.100T>C ENSP00000199280.3:p.Trp34Arg
ENST00000550862.1:c.100T>C ENSP00000450022.1:p.Trp34Arg
ENST00000551526.5:c.100T>C ENSP00000447148.1:p.Trp34Arg
NM_000486.5:c.100T>C , LRG_717t1:c.100T>C NP_000477.1:p.Trp34Arg
NM_000486.6:c.100T>C MANE Select NP_000477.1:p.Trp34Arg
Search 100 bp 5'
Search 100 bp 3'