Canonical Allele Identifier: CA384774143
Gene: AQP2 HGNC NCBI
AQP5-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.50348107G>C (hg19) chr12:g.49954324G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49954324G>C , CM000674.2:g.49954324G>C GRCh38
NC_000012.11:g.50348107G>C , CM000674.1:g.50348107G>C GRCh37
NC_000012.10:g.48634374G>C NCBI36
NG_008913.1:g.8584G>C , LRG_717:g.8584G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.525+5G>C (AQP2) MANE Select ENSP00000199280.3:n.525+5G>C
ENST00000199280.3:c.525+5G>C (AQP2) ENSP00000199280.3:n.525+5G>C
ENST00000550862.1:c.530G>C (AQP2) ENSP00000450022.1:p.Gly177Ala
ENST00000551526.5:c.525+5G>C (AQP2) ENSP00000447148.1:n.525+5G>C
NM_000486.5:c.525+5G>C , LRG_717t1:c.525+5G>C (AQP2) NP_000477.1:n.525+5G>C
NR_110590.1:n.281C>G (AQP5-AS1)
NR_110591.1:n.118-2236C>G (AQP5-AS1)
NM_000486.6:c.525+5G>C (AQP2) MANE Select NP_000477.1:n.525+5G>C
Search 100 bp 5'
Search 100 bp 3'