Canonical Allele Identifier: CA423810199

Gene: ACTN2

Linked Data

• COSMIC: COSM4476920 ; COSM4476921
• MyVariant Identifiers: chr1:g.236918450C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755150C>T , CM000663.2:g.236755150C>T	GRCh38
NC_000001.10:g.236918450C>T , CM000663.1:g.236918450C>T	GRCh37
NC_000001.9:g.234985073C>T	NCBI36
NG_009081.1:g.73681C>T
NG_009081.2:g.96010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2106C>T	ENSP00000443495.1:p.Ile702=
ENST00000461367.2:n.402C>T
ENST00000492634.7:n.2036C>T
ENST00000682015.1:c.2013C>T	ENSP00000506961.1:p.Ile671=
ENST00000682692.1:n.3201C>T
ENST00000682966.1:n.7747C>T
ENST00000683111.1:c.*1392C>T	ENSP00000507913.1:n.*1392C>T
ENST00000683322.1:n.3458C>T
ENST00000683805.1:n.897C>T
ENST00000684050.1:n.4744C>T
ENST00000684122.1:n.253C>T
ENST00000684286.1:n.3661C>T
ENST00000684502.1:n.3403C>T
ENST00000684763.1:n.721C>T
ENST00000366578.6:c.2106C>T MANE Select	ENSP00000355537.4:p.Ile702=
ENST00000492634.6:n.2036C>T
ENST00000542672.6:c.2106C>T	ENSP00000443495.1:p.Ile702=
ENST00000651091.1:c.1796C>T	ENSP00000498677.1:n.1796C>T
ENST00000651275.1:c.1998C>T	ENSP00000498926.1:p.Ile666=
ENST00000651781.1:c.1186C>T
ENST00000651786.1:c.*1478C>T	ENSP00000498364.1:n.*1478C>T
ENST00000652096.1:c.*1511C>T	ENSP00000498896.1:n.*1511C>T
ENST00000366578.5:c.2106C>T	ENSP00000355537.4:p.Ile702=
ENST00000461367.1:n.315C>T
ENST00000542672.5:c.2106C>T	ENSP00000443495.1:p.Ile702=
ENST00000546208.5:c.1482C>T	ENSP00000438384.2:p.Ile494=
NM_001103.3:c.2106C>T	NP_001094.1:p.Ile702=
NM_001278343.1:c.2106C>T	NP_001265272.1:p.Ile702=
NM_001278344.1:c.1482C>T	NP_001265273.1:p.Ile494=
NM_001278343.2:c.2106C>T	NP_001265272.1:p.Ile702=
NM_001103.4:c.2106C>T MANE Select	NP_001094.1:p.Ile702=
NM_001278344.2:c.1482C>T	NP_001265273.1:p.Ile494=