Canonical Allele Identifier: CA384772161
Gene: AQP2 HGNC NCBI

Linked Data

gnomAD v4: 12-49951062-G-C
MyVariant Identifiers: chr12:g.50344845G>C (hg19) chr12:g.49951062G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49951062G>C , CM000674.2:g.49951062G>C GRCh38
NC_000012.11:g.50344845G>C , CM000674.1:g.50344845G>C GRCh37
NC_000012.10:g.48631112G>C NCBI36
NG_008913.1:g.5322G>C , LRG_717:g.5322G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.232G>C MANE Select ENSP00000199280.3:p.Gly78Arg
ENST00000199280.3:c.232G>C ENSP00000199280.3:p.Gly78Arg
ENST00000550862.1:c.232G>C ENSP00000450022.1:p.Gly78Arg
ENST00000551526.5:c.232G>C ENSP00000447148.1:p.Gly78Arg
NM_000486.5:c.232G>C , LRG_717t1:c.232G>C NP_000477.1:p.Gly78Arg
NM_000486.6:c.232G>C MANE Select NP_000477.1:p.Gly78Arg
Search 100 bp 5'
Search 100 bp 3'