Canonical Allele Identifier: CA384771959
Gene: AQP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.50344744T>A (hg19) chr12:g.49950961T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49950961T>A , CM000674.2:g.49950961T>A GRCh38
NC_000012.11:g.50344744T>A , CM000674.1:g.50344744T>A GRCh37
NC_000012.10:g.48631011T>A NCBI36
NG_008913.1:g.5221T>A , LRG_717:g.5221T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000199280.4:c.131T>A MANE Select ENSP00000199280.3:p.Ile44Asn
ENST00000199280.3:c.131T>A ENSP00000199280.3:p.Ile44Asn
ENST00000550862.1:c.131T>A ENSP00000450022.1:p.Ile44Asn
ENST00000551526.5:c.131T>A ENSP00000447148.1:p.Ile44Asn
NM_000486.5:c.131T>A , LRG_717t1:c.131T>A NP_000477.1:p.Ile44Asn
NM_000486.6:c.131T>A MANE Select NP_000477.1:p.Ile44Asn
Search 100 bp 5'
Search 100 bp 3'