Canonical Allele Identifier: CA287173048
Gene: ARRB2 HGNC NCBI

Linked Data

dbSNP Id: rs868374888
gnomAD v3: 17-4719360-G-A
gnomAD v4: 17-4719360-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4719360G>A , CM000679.2:g.4719360G>A GRCh38
NC_000017.10:g.4622655G>A , CM000679.1:g.4622655G>A GRCh37
NC_000017.9:g.4569404G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269260.7:c.857G>A MANE Select ENSP00000269260.2:p.Arg286Gln
ENST00000269260.6:c.857G>A ENSP00000269260.2:p.Arg286Gln
ENST00000346341.6:c.812G>A ENSP00000341895.2:p.Arg271Gln
ENST00000381488.10:c.812G>A ENSP00000370898.6:p.Arg271Gln
ENST00000412477.7:c.920G>A ENSP00000403701.3:p.Arg307Gln
ENST00000571206.1:c.281G>A ENSP00000460607.1:p.Arg94Gln
ENST00000571428.5:c.281G>A ENSP00000465877.1:p.Arg94Gln
ENST00000572457.5:c.281G>A ENSP00000465296.1:p.Arg94Gln
ENST00000574502.5:c.*335G>A ENSP00000458371.1:n.*335G>A
ENST00000574954.5:c.281G>A ENSP00000466344.1:p.Arg94Gln
ENST00000575877.5:c.786+71G>A ENSP00000466857.1:n.786+71G>A
ENST00000576235.1:c.739G>A ENSP00000460879.1:n.739G>A
NM_001257328.1:c.920G>A NP_001244257.1:p.Arg307Gln
NM_001257329.1:c.786+71G>A NP_001244258.1:n.786+71G>A
NM_001257330.1:c.857G>A NP_001244259.1:p.Arg286Gln
NM_001257331.1:c.812G>A NP_001244260.1:p.Arg271Gln
NM_004313.3:c.857G>A NP_004304.1:p.Arg286Gln
NM_199004.1:c.812G>A NP_945355.1:p.Arg271Gln
NR_047516.1:n.1054G>A
XM_006721520.1:c.281G>A XP_006721583.1:p.Arg94Gln
XM_006721521.1:c.281G>A XP_006721584.1:p.Arg94Gln
XM_011523858.1:c.950G>A XP_011522160.1:p.Arg317Gln
XM_011523859.1:c.905G>A XP_011522161.1:p.Arg302Gln
NM_001330064.1:c.281G>A NP_001316993.1:p.Arg94Gln
XM_011523858.2:c.950G>A XP_011522160.1:p.Arg317Gln
XM_017024645.1:c.281G>A XP_016880134.1:p.Arg94Gln
XM_024450751.1:c.857G>A XP_024306519.1:p.Arg286Gln
XM_024450752.1:c.281G>A XP_024306520.1:p.Arg94Gln
XM_024450753.1:c.281G>A XP_024306521.1:p.Arg94Gln
XR_002958006.1:n.864G>A
XR_002958007.1:n.864G>A
NM_004313.4:c.857G>A MANE Select NP_004304.1:p.Arg286Gln
NM_001257328.2:c.920G>A NP_001244257.1:p.Arg307Gln
NM_001257329.2:c.786+71G>A NP_001244258.1:n.786+71G>A
NM_001257330.2:c.857G>A NP_001244259.1:p.Arg286Gln
NM_001257331.2:c.812G>A NP_001244260.1:p.Arg271Gln
NM_001330064.2:c.281G>A NP_001316993.1:p.Arg94Gln
NM_199004.2:c.812G>A NP_945355.1:p.Arg271Gln
NR_047516.2:n.916G>A