Canonical Allele Identifier: CA255577
Gene: AVPR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10851
ClinVar RCV Id: RCV000011598
dbSNP Id: rs104894758

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153905819T>G , CM000685.2:g.153905819T>G GRCh38
NC_000023.10:g.153171273T>G , CM000685.1:g.153171273T>G GRCh37
NC_000023.9:g.152824467T>G NCBI36
NG_008687.1:g.5846T>G
NG_009645.3:g.8405A>C
NG_013220.1:g.25442A>C

Transcript Alleles

HGVS Amino-acid change
NM_000054.4:c.313T>G VV NP_000045.1:p.Phe105Val
NM_001146151.1:c.313T>G VV NP_001139623.1:p.Phe105Val
NR_027419.1:n.560-200T>G
XM_006724828.2:c.313T>G XP_006724891.1:p.Phe105Val
NM_000054.5:c.313T>G VV
NM_001146151.2:c.313T>G VV
XM_006724828.3:c.313T>G
ENST00000337474.5:c.313T>G ENSP00000338072.5:p.Phe105Val
ENST00000358927.6:c.313T>G ENSP00000351805.2:p.Phe105Val
ENST00000370049.1:c.313T>G ENSP00000359066.1:p.Phe105Val
ENST00000430697.1:c.313T>G ENSP00000393513.1:p.Phe105Val
ENST00000434679.5:c.26-200T>G ENSP00000393397.1:p.=
ENST00000464967.5:n.154+3251A>C