Canonical Allele Identifier: CA255563
Gene: AVPR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10836
ClinVar RCV Id: RCV000011583
dbSNP Id: rs104894747

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153905901C>A , CM000685.2:g.153905901C>A GRCh38
NC_000023.10:g.153171355C>A , CM000685.1:g.153171355C>A GRCh37
NC_000023.9:g.152824549C>A NCBI36
NG_008687.1:g.5928C>A
NG_009645.3:g.8323G>T
NG_013220.1:g.25360G>T

Transcript Alleles

HGVS Amino-acid change
NM_000054.4:c.395C>A VV NP_000045.1:p.Ala132Asp
NM_001146151.1:c.395C>A VV NP_001139623.1:p.Ala132Asp
NR_027419.1:n.560-118C>A
XM_006724828.2:c.395C>A XP_006724891.1:p.Ala132Asp
NM_000054.5:c.395C>A VV
NM_001146151.2:c.395C>A VV
XM_006724828.3:c.395C>A
ENST00000337474.5:c.395C>A ENSP00000338072.5:p.Ala132Asp
ENST00000358927.6:c.395C>A ENSP00000351805.2:p.Ala132Asp
ENST00000370049.1:c.395C>A ENSP00000359066.1:p.Ala132Asp
ENST00000430697.1:c.395C>A ENSP00000393513.1:p.Ala132Asp
ENST00000434679.5:c.26-118C>A ENSP00000393397.1:p.=
ENST00000464967.5:n.154+3169G>T