Canonical Allele Identifier: CA2487049931

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754076A= , CM000663.2:g.236754076A=	GRCh38
NC_000001.10:g.236917376A= , CM000663.1:g.236917376A=	GRCh37
NC_000001.9:g.234983999A=	NCBI36
NG_009081.1:g.72607A=
NG_009081.2:g.94936A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1969A=	ENSP00000443495.1:p.Met657=
ENST00000461367.2:n.265A=
ENST00000492634.7:n.1899A=
ENST00000682015.1:c.1876A=	ENSP00000506961.1:p.Met626=
ENST00000682692.1:n.3064A=
ENST00000682966.1:n.7610A=
ENST00000683111.1:c.*1255A=	ENSP00000507913.1:n.*1255A=
ENST00000683322.1:n.3321A=
ENST00000684050.1:n.4607A=
ENST00000684286.1:n.3524A=
ENST00000684502.1:n.3266A=
ENST00000684763.1:n.584A=
ENST00000366578.6:c.1969A= MANE Select	ENSP00000355537.4:p.Met657=
ENST00000492634.6:n.1899A=
ENST00000542672.6:c.1969A=	ENSP00000443495.1:p.Met657=
ENST00000651091.1:c.1659A=	ENSP00000498677.1:n.1659A=
ENST00000651275.1:c.1861A=	ENSP00000498926.1:p.Met621=
ENST00000651781.1:c.1049A=
ENST00000651786.1:c.*1341A=	ENSP00000498364.1:n.*1341A=
ENST00000652096.1:c.*1374A=	ENSP00000498896.1:n.*1374A=
ENST00000366578.5:c.1969A=	ENSP00000355537.4:p.Met657=
ENST00000461367.1:n.178A=
ENST00000542672.5:c.1969A=	ENSP00000443495.1:p.Met657=
ENST00000546208.5:c.1345A=	ENSP00000438384.2:p.Met449=
NM_001103.3:c.1969A=	NP_001094.1:p.Met657=
NM_001278343.1:c.1969A=	NP_001265272.1:p.Met657=
NM_001278344.1:c.1345A=	NP_001265273.1:p.Met449=
NM_001278343.2:c.1969A=	NP_001265272.1:p.Met657=
NM_001103.4:c.1969A= MANE Select	NP_001094.1:p.Met657=
NM_001278344.2:c.1345A=	NP_001265273.1:p.Met449=