Canonical Allele Identifier: CA497522647
Gene: ARRB2 HGNC NCBI

Linked Data

dbSNP Id: rs1313791708
gnomAD v3: 17-4719322-C-T
gnomAD v4: 17-4719322-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4719322C>T , CM000679.2:g.4719322C>T GRCh38
NC_000017.10:g.4622617C>T , CM000679.1:g.4622617C>T GRCh37
NC_000017.9:g.4569366C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000269260.7:c.819C>T MANE Select ENSP00000269260.2:p.Tyr273=
ENST00000269260.6:c.819C>T ENSP00000269260.2:p.Tyr273=
ENST00000346341.6:c.774C>T ENSP00000341895.2:p.Tyr258=
ENST00000381488.10:c.774C>T ENSP00000370898.6:p.Tyr258=
ENST00000412477.7:c.882C>T ENSP00000403701.3:p.Tyr294=
ENST00000571206.1:c.243C>T ENSP00000460607.1:p.Tyr81=
ENST00000571428.5:c.243C>T ENSP00000465877.1:p.Tyr81=
ENST00000572457.5:c.243C>T ENSP00000465296.1:p.Tyr81=
ENST00000574502.5:c.*297C>T ENSP00000458371.1:n.*297C>T
ENST00000574954.5:c.243C>T ENSP00000466344.1:p.Tyr81=
ENST00000575877.5:c.786+33C>T ENSP00000466857.1:n.786+33C>T
ENST00000576235.1:c.701C>T ENSP00000460879.1:n.701C>T
NM_001257328.1:c.882C>T NP_001244257.1:p.Tyr294=
NM_001257329.1:c.786+33C>T NP_001244258.1:n.786+33C>T
NM_001257330.1:c.819C>T NP_001244259.1:p.Tyr273=
NM_001257331.1:c.774C>T NP_001244260.1:p.Tyr258=
NM_004313.3:c.819C>T NP_004304.1:p.Tyr273=
NM_199004.1:c.774C>T NP_945355.1:p.Tyr258=
NR_047516.1:n.1016C>T
XM_006721520.1:c.243C>T XP_006721583.1:p.Tyr81=
XM_006721521.1:c.243C>T XP_006721584.1:p.Tyr81=
XM_011523858.1:c.912C>T XP_011522160.1:p.Tyr304=
XM_011523859.1:c.867C>T XP_011522161.1:p.Tyr289=
NM_001330064.1:c.243C>T NP_001316993.1:p.Tyr81=
XM_011523858.2:c.912C>T XP_011522160.1:p.Tyr304=
XM_017024645.1:c.243C>T XP_016880134.1:p.Tyr81=
XM_024450751.1:c.819C>T XP_024306519.1:p.Tyr273=
XM_024450752.1:c.243C>T XP_024306520.1:p.Tyr81=
XM_024450753.1:c.243C>T XP_024306521.1:p.Tyr81=
XR_002958006.1:n.826C>T
XR_002958007.1:n.826C>T
NM_004313.4:c.819C>T MANE Select NP_004304.1:p.Tyr273=
NM_001257328.2:c.882C>T NP_001244257.1:p.Tyr294=
NM_001257329.2:c.786+33C>T NP_001244258.1:n.786+33C>T
NM_001257330.2:c.819C>T NP_001244259.1:p.Tyr273=
NM_001257331.2:c.774C>T NP_001244260.1:p.Tyr258=
NM_001330064.2:c.243C>T NP_001316993.1:p.Tyr81=
NM_199004.2:c.774C>T NP_945355.1:p.Tyr258=
NR_047516.2:n.878C>T