Canonical Allele Identifier: CA415110398

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906434T>G , CM000685.2:g.153906434T>G GRCh38
NC_000023.10:g.153171888T>G , CM000685.1:g.153171888T>G GRCh37
NC_000023.9:g.152825082T>G NCBI36
NG_008687.1:g.6461T>G
NG_009645.3:g.7790A>C
NG_013220.1:g.24827A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646375.2:c.910+18T>G (AVPR2) MANE Select ENSP00000496396.1:n.910+18T>G
ENST00000434679.6:c.*276+18T>G (AVPR2) ENSP00000393397.1:n.*276+18T>G
ENST00000642393.1:c.97+2636A>C
ENST00000646191.1:c.97+2636A>C
ENST00000646375.1:c.910+18T>G (AVPR2) ENSP00000496396.1:n.910+18T>G
ENST00000337474.5:c.910+18T>G (AVPR2) ENSP00000338072.5:n.910+18T>G
ENST00000358927.6:c.910+18T>G (AVPR2) ENSP00000351805.2:n.910+18T>G
ENST00000370049.1:c.928T>G (AVPR2) ENSP00000359066.1:p.Ter310Glu
ENST00000430697.1:c.823-89T>G (AVPR2) ENSP00000393513.1:n.823-89T>G
ENST00000434679.5:c.*276+18T>G (AVPR2) ENSP00000393397.1:n.*276+18T>G
ENST00000464967.5:n.154+2636A>C (L1CAM)
NM_000054.4:c.910+18T>G (AVPR2) NP_000045.1:n.910+18T>G
NM_001146151.1:c.928T>G (AVPR2) NP_001139623.1:p.Ter310Glu
NR_027419.1:n.957+18T>G (AVPR2)
XM_006724828.2:c.910+18T>G (AVPR2) XP_006724891.1:n.910+18T>G
NM_000054.5:c.910+18T>G (AVPR2) NP_000045.1:n.910+18T>G
NM_001146151.2:c.928T>G (AVPR2) NP_001139623.1:p.Ter310Glu
XM_006724828.3:c.910+18T>G (AVPR2) XP_006724891.1:n.910+18T>G
NM_000054.6:c.910+18T>G (AVPR2) NP_000045.1:n.910+18T>G
NM_001146151.3:c.928T>G (AVPR2) NP_001139623.1:p.Ter310Glu
NR_027419.2:n.863+18T>G (AVPR2)
NM_000054.7:c.910+18T>G (AVPR2) MANE Select NP_000045.1:n.910+18T>G