Canonical Allele Identifier: CA2487053229

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762576A= , CM000663.2:g.236762576A=	GRCh38
NC_000001.10:g.236925876A= , CM000663.1:g.236925876A=	GRCh37
NC_000001.9:g.234992499A=	NCBI36
NG_009081.1:g.81107A=
NG_009081.2:g.103436A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2642A=	ENSP00000443495.1:p.Tyr881=
ENST00000461367.2:n.938A=
ENST00000492634.7:n.2572A=
ENST00000682015.1:c.2549A=	ENSP00000506961.1:p.Tyr850=
ENST00000682490.1:n.560A=
ENST00000682692.1:n.3737A=
ENST00000682966.1:n.8283A=
ENST00000683111.1:c.*1928A=	ENSP00000507913.1:n.*1928A=
ENST00000683322.1:n.3994A=
ENST00000683805.1:n.1433A=
ENST00000684050.1:n.5280A=
ENST00000684122.1:n.2076A=
ENST00000684286.1:n.4197A=
ENST00000684502.1:n.3939A=
ENST00000684763.1:n.1257A=
ENST00000366578.6:c.2642A= MANE Select	ENSP00000355537.4:p.Tyr881=
ENST00000492634.6:n.2572A=
ENST00000542672.6:c.2642A=	ENSP00000443495.1:p.Tyr881=
ENST00000651091.1:c.2332A=	ENSP00000498677.1:n.2332A=
ENST00000651275.1:c.2534A=	ENSP00000498926.1:p.Tyr845=
ENST00000651781.1:c.1722A=
ENST00000651786.1:c.*2014A=	ENSP00000498364.1:n.*2014A=
ENST00000652096.1:c.*2047A=	ENSP00000498896.1:n.*2047A=
ENST00000366578.5:c.2642A=	ENSP00000355537.4:p.Tyr881=
ENST00000542672.5:c.2642A=	ENSP00000443495.1:p.Tyr881=
ENST00000546208.5:c.2018A=	ENSP00000438384.2:p.Tyr673=
NM_001103.3:c.2642A=	NP_001094.1:p.Tyr881=
NM_001278343.1:c.2642A=	NP_001265272.1:p.Tyr881=
NM_001278344.1:c.2018A=	NP_001265273.1:p.Tyr673=
NM_001278343.2:c.2642A=	NP_001265272.1:p.Tyr881=
NM_001103.4:c.2642A= MANE Select	NP_001094.1:p.Tyr881=
NM_001278344.2:c.2018A=	NP_001265273.1:p.Tyr673=