Canonical Allele Identifier: CA415111815

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153906665G>A , CM000685.2:g.153906665G>A GRCh38
NC_000023.10:g.153172119G>A , CM000685.1:g.153172119G>A GRCh37
NC_000023.9:g.152825313G>A NCBI36
NG_008687.1:g.6692G>A
NG_009645.3:g.7559C>T
NG_013220.1:g.24596C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646375.2:c.1053G>A (AVPR2) MANE Select ENSP00000496396.1:p.Leu351=
ENST00000434679.6:c.*419G>A (AVPR2) ENSP00000393397.1:n.*419G>A
ENST00000642393.1:c.97+2405C>T
ENST00000646191.1:c.97+2405C>T
ENST00000646375.1:c.1053G>A (AVPR2) ENSP00000496396.1:p.Leu351=
ENST00000337474.5:c.1053G>A (AVPR2) ENSP00000338072.5:p.Leu351=
ENST00000358927.6:c.1053G>A (AVPR2) ENSP00000351805.2:p.Leu351=
ENST00000370049.1:c.*229G>A (AVPR2) ENSP00000359066.1:n.*229G>A
ENST00000430697.1:c.965G>A (AVPR2) ENSP00000393513.1:p.Trp322Ter
ENST00000434679.5:c.*419G>A (AVPR2) ENSP00000393397.1:n.*419G>A
ENST00000464967.5:n.154+2405C>T (L1CAM)
NM_000054.4:c.1053G>A (AVPR2) NP_000045.1:p.Leu351=
NM_001146151.1:c.*229G>A (AVPR2) NP_001139623.1:n.*229G>A
NR_027419.1:n.1100G>A (AVPR2)
XM_006724828.2:c.1053G>A (AVPR2) XP_006724891.1:p.Leu351=
NM_000054.5:c.1053G>A (AVPR2) NP_000045.1:p.Leu351=
NM_001146151.2:c.*229G>A (AVPR2) NP_001139623.1:n.*229G>A
XM_006724828.3:c.1053G>A (AVPR2) XP_006724891.1:p.Leu351=
NM_000054.6:c.1053G>A (AVPR2) NP_000045.1:p.Leu351=
NM_001146151.3:c.*229G>A (AVPR2) NP_001139623.1:n.*229G>A
NR_027419.2:n.1006G>A (AVPR2)
NM_000054.7:c.1053G>A (AVPR2) MANE Select NP_000045.1:p.Leu351=