Canonical Allele Identifier: CA415111672

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906652C>T , CM000685.2:g.153906652C>T GRCh38
NC_000023.10:g.153172106C>T , CM000685.1:g.153172106C>T GRCh37
NC_000023.9:g.152825300C>T NCBI36
NG_008687.1:g.6679C>T
NG_009645.3:g.7572G>A
NG_013220.1:g.24609G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000646375.2:c.1040C>T (AVPR2) MANE Select ENSP00000496396.1:p.Thr347Ile
ENST00000434679.6:c.*406C>T (AVPR2) ENSP00000393397.1:n.*406C>T
ENST00000642393.1:c.97+2418G>A
ENST00000646191.1:c.97+2418G>A
ENST00000646375.1:c.1040C>T (AVPR2) ENSP00000496396.1:p.Thr347Ile
ENST00000337474.5:c.1040C>T (AVPR2) ENSP00000338072.5:p.Thr347Ile
ENST00000358927.6:c.1040C>T (AVPR2) ENSP00000351805.2:p.Thr347Ile
ENST00000370049.1:c.*216C>T (AVPR2) ENSP00000359066.1:n.*216C>T
ENST00000430697.1:c.952C>T (AVPR2) ENSP00000393513.1:p.Pro318Ser
ENST00000434679.5:c.*406C>T (AVPR2) ENSP00000393397.1:n.*406C>T
ENST00000464967.5:n.154+2418G>A (L1CAM)
NM_000054.4:c.1040C>T (AVPR2) NP_000045.1:p.Thr347Ile
NM_001146151.1:c.*216C>T (AVPR2) NP_001139623.1:n.*216C>T
NR_027419.1:n.1087C>T (AVPR2)
XM_006724828.2:c.1040C>T (AVPR2) XP_006724891.1:p.Thr347Ile
NM_000054.5:c.1040C>T (AVPR2) NP_000045.1:p.Thr347Ile
NM_001146151.2:c.*216C>T (AVPR2) NP_001139623.1:n.*216C>T
XM_006724828.3:c.1040C>T (AVPR2) XP_006724891.1:p.Thr347Ile
NM_000054.6:c.1040C>T (AVPR2) NP_000045.1:p.Thr347Ile
NM_001146151.3:c.*216C>T (AVPR2) NP_001139623.1:n.*216C>T
NR_027419.2:n.993C>T (AVPR2)
NM_000054.7:c.1040C>T (AVPR2) MANE Select NP_000045.1:p.Thr347Ile