Canonical Allele Identifier: CA384771967
Gene: AQP2 HGNC NCBI

Linked Data

dbSNP Id: rs1284823222
gnomAD v2: 12-50344747-C-G
gnomAD v3: 12-49950964-C-G
gnomAD v4: 12-49950964-C-G
MyVariant Identifiers: chr12:g.50344747C>G (hg19) chr12:g.49950964C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950964C>G , CM000674.2:g.49950964C>G GRCh38
NC_000012.11:g.50344747C>G , CM000674.1:g.50344747C>G GRCh37
NC_000012.10:g.48631014C>G NCBI36
NG_008913.1:g.5224C>G , LRG_717:g.5224C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.134C>G MANE Select ENSP00000199280.3:p.Ala45Gly
ENST00000199280.3:c.134C>G ENSP00000199280.3:p.Ala45Gly
ENST00000550862.1:c.134C>G ENSP00000450022.1:p.Ala45Gly
ENST00000551526.5:c.134C>G ENSP00000447148.1:p.Ala45Gly
NM_000486.5:c.134C>G , LRG_717t1:c.134C>G NP_000477.1:p.Ala45Gly
NM_000486.6:c.134C>G MANE Select NP_000477.1:p.Ala45Gly
Search 100 bp 5'
Search 100 bp 3'