Canonical Allele Identifier: CA605235881
Gene: AQP2 HGNC NCBI

Linked Data

dbSNP Id: rs1354952791
gnomAD v2: 12-50344756-TTGG-T
gnomAD v4: 12-49950973-TTGG-T
MyVariant Identifiers: chr12:g.50344757_50344759del (hg19) chr12:g.49950974_49950976del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950974_49950976del , CM000674.2:g.49950974_49950976del GRCh38
NC_000012.11:g.50344757_50344759del , CM000674.1:g.50344757_50344759del GRCh37
NC_000012.10:g.48631024_48631026del NCBI36
NG_008913.1:g.5234_5236del , LRG_717:g.5234_5236del

Transcript Alleles

HGVS Amino-acid Change
ENST00000199280.4:c.144_146del MANE Select ENSP00000199280.3:p.Gly49del
ENST00000199280.3:c.144_146del ENSP00000199280.3:p.Gly49del
ENST00000550862.1:c.144_146del ENSP00000450022.1:p.Gly49del
ENST00000551526.5:c.144_146del ENSP00000447148.1:p.Gly49del
NM_000486.5:c.144_146del , LRG_717t1:c.144_146del NP_000477.1:p.Gly49del
NM_000486.6:c.144_146del MANE Select NP_000477.1:p.Gly49del
Search 100 bp 5'
Search 100 bp 3'