Canonical Allele Identifier: CA415110562

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906535T>G , CM000685.2:g.153906535T>G GRCh38
NC_000023.10:g.153171989T>G , CM000685.1:g.153171989T>G GRCh37
NC_000023.9:g.152825183T>G NCBI36
NG_008687.1:g.6562T>G
NG_009645.3:g.7689A>C
NG_013220.1:g.24726A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646375.2:c.923T>G (AVPR2) MANE Select ENSP00000496396.1:p.Val308Gly
ENST00000434679.6:c.*289T>G (AVPR2) ENSP00000393397.1:n.*289T>G
ENST00000642393.1:c.97+2535A>C
ENST00000646191.1:c.97+2535A>C
ENST00000646375.1:c.923T>G (AVPR2) ENSP00000496396.1:p.Val308Gly
ENST00000337474.5:c.923T>G (AVPR2) ENSP00000338072.5:p.Val308Gly
ENST00000358927.6:c.923T>G (AVPR2) ENSP00000351805.2:p.Val308Gly
ENST00000370049.1:c.*99T>G (AVPR2) ENSP00000359066.1:n.*99T>G
ENST00000430697.1:c.835T>G (AVPR2) ENSP00000393513.1:p.Cys279Gly
ENST00000434679.5:c.*289T>G (AVPR2) ENSP00000393397.1:n.*289T>G
ENST00000464967.5:n.154+2535A>C (L1CAM)
NM_000054.4:c.923T>G (AVPR2) NP_000045.1:p.Val308Gly
NM_001146151.1:c.*99T>G (AVPR2) NP_001139623.1:n.*99T>G
NR_027419.1:n.970T>G (AVPR2)
XM_006724828.2:c.923T>G (AVPR2) XP_006724891.1:p.Val308Gly
NM_000054.5:c.923T>G (AVPR2) NP_000045.1:p.Val308Gly
NM_001146151.2:c.*99T>G (AVPR2) NP_001139623.1:n.*99T>G
XM_006724828.3:c.923T>G (AVPR2) XP_006724891.1:p.Val308Gly
NM_000054.6:c.923T>G (AVPR2) NP_000045.1:p.Val308Gly
NM_001146151.3:c.*99T>G (AVPR2) NP_001139623.1:n.*99T>G
NR_027419.2:n.876T>G (AVPR2)
NM_000054.7:c.923T>G (AVPR2) MANE Select NP_000045.1:p.Val308Gly