Canonical Allele Identifier: CA397264707

Gene: ARRB2

Linked Data

• MyVariant Identifiers: chr17:g.4622603T>C (hg19) ; chr17:g.4719308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4719308T>C , CM000679.2:g.4719308T>C	GRCh38
NC_000017.10:g.4622603T>C , CM000679.1:g.4622603T>C	GRCh37
NC_000017.9:g.4569352T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269260.7:c.805T>C MANE Select	ENSP00000269260.2:p.Phe269Leu
ENST00000269260.6:c.805T>C	ENSP00000269260.2:p.Phe269Leu
ENST00000346341.6:c.760T>C	ENSP00000341895.2:p.Phe254Leu
ENST00000381488.10:c.760T>C	ENSP00000370898.6:p.Phe254Leu
ENST00000412477.7:c.868T>C	ENSP00000403701.3:p.Phe290Leu
ENST00000571206.1:c.229T>C	ENSP00000460607.1:p.Phe77Leu
ENST00000571428.5:c.229T>C	ENSP00000465877.1:p.Phe77Leu
ENST00000572457.5:c.229T>C	ENSP00000465296.1:p.Phe77Leu
ENST00000574502.5:c.*283T>C	ENSP00000458371.1:n.*283T>C
ENST00000574954.5:c.229T>C	ENSP00000466344.1:p.Phe77Leu
ENST00000575877.5:c.786+19T>C	ENSP00000466857.1:n.786+19T>C
ENST00000576235.1:c.687T>C	ENSP00000460879.1:n.687T>C
NM_001257328.1:c.868T>C	NP_001244257.1:p.Phe290Leu
NM_001257329.1:c.786+19T>C	NP_001244258.1:n.786+19T>C
NM_001257330.1:c.805T>C	NP_001244259.1:p.Phe269Leu
NM_001257331.1:c.760T>C	NP_001244260.1:p.Phe254Leu
NM_004313.3:c.805T>C	NP_004304.1:p.Phe269Leu
NM_199004.1:c.760T>C	NP_945355.1:p.Phe254Leu
NR_047516.1:n.1002T>C
XM_006721520.1:c.229T>C	XP_006721583.1:p.Phe77Leu
XM_006721521.1:c.229T>C	XP_006721584.1:p.Phe77Leu
XM_011523858.1:c.898T>C	XP_011522160.1:p.Phe300Leu
XM_011523859.1:c.853T>C	XP_011522161.1:p.Phe285Leu
NM_001330064.1:c.229T>C	NP_001316993.1:p.Phe77Leu
XM_011523858.2:c.898T>C	XP_011522160.1:p.Phe300Leu
XM_017024645.1:c.229T>C	XP_016880134.1:p.Phe77Leu
XM_024450751.1:c.805T>C	XP_024306519.1:p.Phe269Leu
XM_024450752.1:c.229T>C	XP_024306520.1:p.Phe77Leu
XM_024450753.1:c.229T>C	XP_024306521.1:p.Phe77Leu
XR_002958006.1:n.812T>C
XR_002958007.1:n.812T>C
NM_004313.4:c.805T>C MANE Select	NP_004304.1:p.Phe269Leu
NM_001257328.2:c.868T>C	NP_001244257.1:p.Phe290Leu
NM_001257329.2:c.786+19T>C	NP_001244258.1:n.786+19T>C
NM_001257330.2:c.805T>C	NP_001244259.1:p.Phe269Leu
NM_001257331.2:c.760T>C	NP_001244260.1:p.Phe254Leu
NM_001330064.2:c.229T>C	NP_001316993.1:p.Phe77Leu
NM_199004.2:c.760T>C	NP_945355.1:p.Phe254Leu
NR_047516.2:n.864T>C