Canonical Allele Identifier: CA497522686
Gene: ARRB2 HGNC NCBI

Linked Data

gnomAD v4: 17-4719350-C-A
MyVariant Identifiers: chr17:g.4622645C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4719350C>A , CM000679.2:g.4719350C>A GRCh38
NC_000017.10:g.4622645C>A , CM000679.1:g.4622645C>A GRCh37
NC_000017.9:g.4569394C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000269260.7:c.847C>A MANE Select ENSP00000269260.2:p.Arg283=
ENST00000269260.6:c.847C>A ENSP00000269260.2:p.Arg283=
ENST00000346341.6:c.802C>A ENSP00000341895.2:p.Arg268=
ENST00000381488.10:c.802C>A ENSP00000370898.6:p.Arg268=
ENST00000412477.7:c.910C>A ENSP00000403701.3:p.Arg304=
ENST00000571206.1:c.271C>A ENSP00000460607.1:p.Arg91=
ENST00000571428.5:c.271C>A ENSP00000465877.1:p.Arg91=
ENST00000572457.5:c.271C>A ENSP00000465296.1:p.Arg91=
ENST00000574502.5:c.*325C>A ENSP00000458371.1:n.*325C>A
ENST00000574954.5:c.271C>A ENSP00000466344.1:p.Arg91=
ENST00000575877.5:c.786+61C>A ENSP00000466857.1:n.786+61C>A
ENST00000576235.1:c.729C>A ENSP00000460879.1:n.729C>A
NM_001257328.1:c.910C>A NP_001244257.1:p.Arg304=
NM_001257329.1:c.786+61C>A NP_001244258.1:n.786+61C>A
NM_001257330.1:c.847C>A NP_001244259.1:p.Arg283=
NM_001257331.1:c.802C>A NP_001244260.1:p.Arg268=
NM_004313.3:c.847C>A NP_004304.1:p.Arg283=
NM_199004.1:c.802C>A NP_945355.1:p.Arg268=
NR_047516.1:n.1044C>A
XM_006721520.1:c.271C>A XP_006721583.1:p.Arg91=
XM_006721521.1:c.271C>A XP_006721584.1:p.Arg91=
XM_011523858.1:c.940C>A XP_011522160.1:p.Arg314=
XM_011523859.1:c.895C>A XP_011522161.1:p.Arg299=
NM_001330064.1:c.271C>A NP_001316993.1:p.Arg91=
XM_011523858.2:c.940C>A XP_011522160.1:p.Arg314=
XM_017024645.1:c.271C>A XP_016880134.1:p.Arg91=
XM_024450751.1:c.847C>A XP_024306519.1:p.Arg283=
XM_024450752.1:c.271C>A XP_024306520.1:p.Arg91=
XM_024450753.1:c.271C>A XP_024306521.1:p.Arg91=
XR_002958006.1:n.854C>A
XR_002958007.1:n.854C>A
NM_004313.4:c.847C>A MANE Select NP_004304.1:p.Arg283=
NM_001257328.2:c.910C>A NP_001244257.1:p.Arg304=
NM_001257329.2:c.786+61C>A NP_001244258.1:n.786+61C>A
NM_001257330.2:c.847C>A NP_001244259.1:p.Arg283=
NM_001257331.2:c.802C>A NP_001244260.1:p.Arg268=
NM_001330064.2:c.271C>A NP_001316993.1:p.Arg91=
NM_199004.2:c.802C>A NP_945355.1:p.Arg268=
NR_047516.2:n.906C>A