Canonical Allele Identifier: CA397264532

Gene: ARRB2

Linked Data

• dbSNP Id: rs1357510718
• gnomAD v4: 17-4719287-C-A
• MyVariant Identifiers: chr17:g.4622582C>A (hg19) ; chr17:g.4719287C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4719287C>A , CM000679.2:g.4719287C>A	GRCh38
NC_000017.10:g.4622582C>A , CM000679.1:g.4622582C>A	GRCh37
NC_000017.9:g.4569331C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000269260.7:c.784C>A MANE Select	ENSP00000269260.2:p.Gln262Lys
ENST00000269260.6:c.784C>A	ENSP00000269260.2:p.Gln262Lys
ENST00000346341.6:c.739C>A	ENSP00000341895.2:p.Gln247Lys
ENST00000381488.10:c.739C>A	ENSP00000370898.6:p.Gln247Lys
ENST00000412477.7:c.847C>A	ENSP00000403701.3:p.Gln283Lys
ENST00000571206.1:c.208C>A	ENSP00000460607.1:p.Gln70Lys
ENST00000571428.5:c.208C>A	ENSP00000465877.1:p.Gln70Lys
ENST00000572457.5:c.208C>A	ENSP00000465296.1:p.Gln70Lys
ENST00000574502.5:c.*262C>A	ENSP00000458371.1:n.*262C>A
ENST00000574954.5:c.208C>A	ENSP00000466344.1:p.Gln70Lys
ENST00000575877.5:c.784C>A	ENSP00000466857.1:p.Gln262Lys
ENST00000576235.1:c.666C>A	ENSP00000460879.1:n.666C>A
NM_001257328.1:c.847C>A	NP_001244257.1:p.Gln283Lys
NM_001257329.1:c.784C>A	NP_001244258.1:p.Gln262Lys
NM_001257330.1:c.784C>A	NP_001244259.1:p.Gln262Lys
NM_001257331.1:c.739C>A	NP_001244260.1:p.Gln247Lys
NM_004313.3:c.784C>A	NP_004304.1:p.Gln262Lys
NM_199004.1:c.739C>A	NP_945355.1:p.Gln247Lys
NR_047516.1:n.981C>A
XM_006721520.1:c.208C>A	XP_006721583.1:p.Gln70Lys
XM_006721521.1:c.208C>A	XP_006721584.1:p.Gln70Lys
XM_011523858.1:c.877C>A	XP_011522160.1:p.Gln293Lys
XM_011523859.1:c.832C>A	XP_011522161.1:p.Gln278Lys
NM_001330064.1:c.208C>A	NP_001316993.1:p.Gln70Lys
XM_011523858.2:c.877C>A	XP_011522160.1:p.Gln293Lys
XM_017024645.1:c.208C>A	XP_016880134.1:p.Gln70Lys
XM_024450751.1:c.784C>A	XP_024306519.1:p.Gln262Lys
XM_024450752.1:c.208C>A	XP_024306520.1:p.Gln70Lys
XM_024450753.1:c.208C>A	XP_024306521.1:p.Gln70Lys
XR_002958006.1:n.791C>A
XR_002958007.1:n.791C>A
NM_004313.4:c.784C>A MANE Select	NP_004304.1:p.Gln262Lys
NM_001257328.2:c.847C>A	NP_001244257.1:p.Gln283Lys
NM_001257329.2:c.784C>A	NP_001244258.1:p.Gln262Lys
NM_001257330.2:c.784C>A	NP_001244259.1:p.Gln262Lys
NM_001257331.2:c.739C>A	NP_001244260.1:p.Gln247Lys
NM_001330064.2:c.208C>A	NP_001316993.1:p.Gln70Lys
NM_199004.2:c.739C>A	NP_945355.1:p.Gln247Lys
NR_047516.2:n.843C>A