Canonical Allele Identifier: CA497522677

Gene: ARRB2

Linked Data

• gnomAD v4: 17-4719340-C-T
• MyVariant Identifiers: chr17:g.4622635C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4719340C>T , CM000679.2:g.4719340C>T	GRCh38
NC_000017.10:g.4622635C>T , CM000679.1:g.4622635C>T	GRCh37
NC_000017.9:g.4569384C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269260.7:c.837C>T MANE Select	ENSP00000269260.2:p.Leu279=
ENST00000269260.6:c.837C>T	ENSP00000269260.2:p.Leu279=
ENST00000346341.6:c.792C>T	ENSP00000341895.2:p.Leu264=
ENST00000381488.10:c.792C>T	ENSP00000370898.6:p.Leu264=
ENST00000412477.7:c.900C>T	ENSP00000403701.3:p.Leu300=
ENST00000571206.1:c.261C>T	ENSP00000460607.1:p.Leu87=
ENST00000571428.5:c.261C>T	ENSP00000465877.1:p.Leu87=
ENST00000572457.5:c.261C>T	ENSP00000465296.1:p.Leu87=
ENST00000574502.5:c.*315C>T	ENSP00000458371.1:n.*315C>T
ENST00000574954.5:c.261C>T	ENSP00000466344.1:p.Leu87=
ENST00000575877.5:c.786+51C>T	ENSP00000466857.1:n.786+51C>T
ENST00000576235.1:c.719C>T	ENSP00000460879.1:n.719C>T
NM_001257328.1:c.900C>T	NP_001244257.1:p.Leu300=
NM_001257329.1:c.786+51C>T	NP_001244258.1:n.786+51C>T
NM_001257330.1:c.837C>T	NP_001244259.1:p.Leu279=
NM_001257331.1:c.792C>T	NP_001244260.1:p.Leu264=
NM_004313.3:c.837C>T	NP_004304.1:p.Leu279=
NM_199004.1:c.792C>T	NP_945355.1:p.Leu264=
NR_047516.1:n.1034C>T
XM_006721520.1:c.261C>T	XP_006721583.1:p.Leu87=
XM_006721521.1:c.261C>T	XP_006721584.1:p.Leu87=
XM_011523858.1:c.930C>T	XP_011522160.1:p.Leu310=
XM_011523859.1:c.885C>T	XP_011522161.1:p.Leu295=
NM_001330064.1:c.261C>T	NP_001316993.1:p.Leu87=
XM_011523858.2:c.930C>T	XP_011522160.1:p.Leu310=
XM_017024645.1:c.261C>T	XP_016880134.1:p.Leu87=
XM_024450751.1:c.837C>T	XP_024306519.1:p.Leu279=
XM_024450752.1:c.261C>T	XP_024306520.1:p.Leu87=
XM_024450753.1:c.261C>T	XP_024306521.1:p.Leu87=
XR_002958006.1:n.844C>T
XR_002958007.1:n.844C>T
NM_004313.4:c.837C>T MANE Select	NP_004304.1:p.Leu279=
NM_001257328.2:c.900C>T	NP_001244257.1:p.Leu300=
NM_001257329.2:c.786+51C>T	NP_001244258.1:n.786+51C>T
NM_001257330.2:c.837C>T	NP_001244259.1:p.Leu279=
NM_001257331.2:c.792C>T	NP_001244260.1:p.Leu264=
NM_001330064.2:c.261C>T	NP_001316993.1:p.Leu87=
NM_199004.2:c.792C>T	NP_945355.1:p.Leu264=
NR_047516.2:n.896C>T