Canonical Allele Identifier: CA384771744
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49950932-G-T
MyVariant Identifiers: chr12:g.50344715G>T (hg19) chr12:g.49950932G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950932G>T , CM000674.2:g.49950932G>T GRCh38
NC_000012.11:g.50344715G>T , CM000674.1:g.50344715G>T GRCh37
NC_000012.10:g.48630982G>T NCBI36
NG_008913.1:g.5192G>T , LRG_717:g.5192G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.102G>T MANE Select ENSP00000199280.3:p.Trp34Cys
ENST00000199280.3:c.102G>T ENSP00000199280.3:p.Trp34Cys
ENST00000550862.1:c.102G>T ENSP00000450022.1:p.Trp34Cys
ENST00000551526.5:c.102G>T ENSP00000447148.1:p.Trp34Cys
NM_000486.5:c.102G>T , LRG_717t1:c.102G>T NP_000477.1:p.Trp34Cys
NM_000486.6:c.102G>T MANE Select NP_000477.1:p.Trp34Cys
Search 100 bp 5'
Search 100 bp 3'