Canonical Allele Identifier: CA397264784

Gene: ARRB2

Linked Data

• MyVariant Identifiers: chr17:g.4622612G>T (hg19) ; chr17:g.4719317G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4719317G>T , CM000679.2:g.4719317G>T	GRCh38
NC_000017.10:g.4622612G>T , CM000679.1:g.4622612G>T	GRCh37
NC_000017.9:g.4569361G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269260.7:c.814G>T MANE Select	ENSP00000269260.2:p.Val272Leu
ENST00000269260.6:c.814G>T	ENSP00000269260.2:p.Val272Leu
ENST00000346341.6:c.769G>T	ENSP00000341895.2:p.Val257Leu
ENST00000381488.10:c.769G>T	ENSP00000370898.6:p.Val257Leu
ENST00000412477.7:c.877G>T	ENSP00000403701.3:p.Val293Leu
ENST00000571206.1:c.238G>T	ENSP00000460607.1:p.Val80Leu
ENST00000571428.5:c.238G>T	ENSP00000465877.1:p.Val80Leu
ENST00000572457.5:c.238G>T	ENSP00000465296.1:p.Val80Leu
ENST00000574502.5:c.*292G>T	ENSP00000458371.1:n.*292G>T
ENST00000574954.5:c.238G>T	ENSP00000466344.1:p.Val80Leu
ENST00000575877.5:c.786+28G>T	ENSP00000466857.1:n.786+28G>T
ENST00000576235.1:c.696G>T	ENSP00000460879.1:n.696G>T
NM_001257328.1:c.877G>T	NP_001244257.1:p.Val293Leu
NM_001257329.1:c.786+28G>T	NP_001244258.1:n.786+28G>T
NM_001257330.1:c.814G>T	NP_001244259.1:p.Val272Leu
NM_001257331.1:c.769G>T	NP_001244260.1:p.Val257Leu
NM_004313.3:c.814G>T	NP_004304.1:p.Val272Leu
NM_199004.1:c.769G>T	NP_945355.1:p.Val257Leu
NR_047516.1:n.1011G>T
XM_006721520.1:c.238G>T	XP_006721583.1:p.Val80Leu
XM_006721521.1:c.238G>T	XP_006721584.1:p.Val80Leu
XM_011523858.1:c.907G>T	XP_011522160.1:p.Val303Leu
XM_011523859.1:c.862G>T	XP_011522161.1:p.Val288Leu
NM_001330064.1:c.238G>T	NP_001316993.1:p.Val80Leu
XM_011523858.2:c.907G>T	XP_011522160.1:p.Val303Leu
XM_017024645.1:c.238G>T	XP_016880134.1:p.Val80Leu
XM_024450751.1:c.814G>T	XP_024306519.1:p.Val272Leu
XM_024450752.1:c.238G>T	XP_024306520.1:p.Val80Leu
XM_024450753.1:c.238G>T	XP_024306521.1:p.Val80Leu
XR_002958006.1:n.821G>T
XR_002958007.1:n.821G>T
NM_004313.4:c.814G>T MANE Select	NP_004304.1:p.Val272Leu
NM_001257328.2:c.877G>T	NP_001244257.1:p.Val293Leu
NM_001257329.2:c.786+28G>T	NP_001244258.1:n.786+28G>T
NM_001257330.2:c.814G>T	NP_001244259.1:p.Val272Leu
NM_001257331.2:c.769G>T	NP_001244260.1:p.Val257Leu
NM_001330064.2:c.238G>T	NP_001316993.1:p.Val80Leu
NM_199004.2:c.769G>T	NP_945355.1:p.Val257Leu
NR_047516.2:n.873G>T