Canonical Allele Identifier: CA255579
Gene: AVPR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 10853
dbSNP Id: rs104894760

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153905816C>T , CM000685.2:g.153905816C>T GRCh38
NC_000023.10:g.153171270C>T , CM000685.1:g.153171270C>T GRCh37
NC_000023.9:g.152824464C>T NCBI36
NG_008687.1:g.5843C>T
NG_009645.3:g.8408G>A
NG_013220.1:g.25445G>A

Transcript Alleles

HGVS Amino-acid change
NM_000054.4:c.310C>T VV NP_000045.1:p.Arg104Cys
NM_001146151.1:c.310C>T VV NP_001139623.1:p.Arg104Cys
NR_027419.1:n.560-203C>T
XM_006724828.2:c.310C>T XP_006724891.1:p.Arg104Cys
NM_000054.5:c.310C>T VV NP_000045.1:p.Arg104Cys
NM_001146151.2:c.310C>T VV NP_001139623.1:p.Arg104Cys
XM_006724828.3:c.310C>T XP_006724891.1:p.Arg104Cys
ENST00000337474.5:c.310C>T ENSP00000338072.5:p.Arg104Cys
ENST00000358927.6:c.310C>T ENSP00000351805.2:p.Arg104Cys
ENST00000370049.1:c.310C>T ENSP00000359066.1:p.Arg104Cys
ENST00000430697.1:c.310C>T ENSP00000393513.1:p.Arg104Cys
ENST00000434679.5:c.26-203C>T ENSP00000393397.1:p.=
ENST00000464967.5:n.154+3254G>A