Canonical Allele Identifier: CA423810188

Gene: ACTN2

Linked Data

• COSMIC: COSM1473649 ; COSM5212660
• MyVariant Identifiers: chr1:g.236918429G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755129G>T , CM000663.2:g.236755129G>T	GRCh38
NC_000001.10:g.236918429G>T , CM000663.1:g.236918429G>T	GRCh37
NC_000001.9:g.234985052G>T	NCBI36
NG_009081.1:g.73660G>T
NG_009081.2:g.95989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2085G>T	ENSP00000443495.1:p.Leu695=
ENST00000461367.2:n.381G>T
ENST00000492634.7:n.2015G>T
ENST00000682015.1:c.1992G>T	ENSP00000506961.1:p.Leu664=
ENST00000682692.1:n.3180G>T
ENST00000682966.1:n.7726G>T
ENST00000683111.1:c.*1371G>T	ENSP00000507913.1:n.*1371G>T
ENST00000683322.1:n.3437G>T
ENST00000683805.1:n.876G>T
ENST00000684050.1:n.4723G>T
ENST00000684122.1:n.232G>T
ENST00000684286.1:n.3640G>T
ENST00000684502.1:n.3382G>T
ENST00000684763.1:n.700G>T
ENST00000366578.6:c.2085G>T MANE Select	ENSP00000355537.4:p.Leu695=
ENST00000492634.6:n.2015G>T
ENST00000542672.6:c.2085G>T	ENSP00000443495.1:p.Leu695=
ENST00000651091.1:c.1775G>T	ENSP00000498677.1:n.1775G>T
ENST00000651275.1:c.1977G>T	ENSP00000498926.1:p.Leu659=
ENST00000651781.1:c.1165G>T
ENST00000651786.1:c.*1457G>T	ENSP00000498364.1:n.*1457G>T
ENST00000652096.1:c.*1490G>T	ENSP00000498896.1:n.*1490G>T
ENST00000366578.5:c.2085G>T	ENSP00000355537.4:p.Leu695=
ENST00000461367.1:n.294G>T
ENST00000542672.5:c.2085G>T	ENSP00000443495.1:p.Leu695=
ENST00000546208.5:c.1461G>T	ENSP00000438384.2:p.Leu487=
NM_001103.3:c.2085G>T	NP_001094.1:p.Leu695=
NM_001278343.1:c.2085G>T	NP_001265272.1:p.Leu695=
NM_001278344.1:c.1461G>T	NP_001265273.1:p.Leu487=
NM_001278343.2:c.2085G>T	NP_001265272.1:p.Leu695=
NM_001103.4:c.2085G>T MANE Select	NP_001094.1:p.Leu695=
NM_001278344.2:c.1461G>T	NP_001265273.1:p.Leu487=