Canonical Allele Identifier: CA345392034

Gene: ACTN2

Linked Data

• COSMIC: COSM2000904 ; COSM4233959
• MyVariant Identifiers: chr1:g.236925761C>T (hg19) ; chr1:g.236762461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762461C>T , CM000663.2:g.236762461C>T	GRCh38
NC_000001.10:g.236925761C>T , CM000663.1:g.236925761C>T	GRCh37
NC_000001.9:g.234992384C>T	NCBI36
NG_009081.1:g.80992C>T
NG_009081.2:g.103321C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2527C>T	ENSP00000443495.1:p.Pro843Ser
ENST00000461367.2:n.823C>T
ENST00000492634.7:n.2457C>T
ENST00000682015.1:c.2434C>T	ENSP00000506961.1:p.Pro812Ser
ENST00000682490.1:n.445C>T
ENST00000682692.1:n.3622C>T
ENST00000682966.1:n.8168C>T
ENST00000683111.1:c.*1813C>T	ENSP00000507913.1:n.*1813C>T
ENST00000683322.1:n.3879C>T
ENST00000683805.1:n.1318C>T
ENST00000684050.1:n.5165C>T
ENST00000684122.1:n.1961C>T
ENST00000684286.1:n.4082C>T
ENST00000684502.1:n.3824C>T
ENST00000684763.1:n.1142C>T
ENST00000366578.6:c.2527C>T MANE Select	ENSP00000355537.4:p.Pro843Ser
ENST00000492634.6:n.2457C>T
ENST00000542672.6:c.2527C>T	ENSP00000443495.1:p.Pro843Ser
ENST00000651091.1:c.2217C>T	ENSP00000498677.1:n.2217C>T
ENST00000651275.1:c.2419C>T	ENSP00000498926.1:p.Pro807Ser
ENST00000651781.1:c.1607C>T
ENST00000651786.1:c.*1899C>T	ENSP00000498364.1:n.*1899C>T
ENST00000652096.1:c.*1932C>T	ENSP00000498896.1:n.*1932C>T
ENST00000366578.5:c.2527C>T	ENSP00000355537.4:p.Pro843Ser
ENST00000461367.1:n.736C>T
ENST00000542672.5:c.2527C>T	ENSP00000443495.1:p.Pro843Ser
ENST00000546208.5:c.1903C>T	ENSP00000438384.2:p.Pro635Ser
NM_001103.3:c.2527C>T	NP_001094.1:p.Pro843Ser
NM_001278343.1:c.2527C>T	NP_001265272.1:p.Pro843Ser
NM_001278344.1:c.1903C>T	NP_001265273.1:p.Pro635Ser
NM_001278343.2:c.2527C>T	NP_001265272.1:p.Pro843Ser
NM_001103.4:c.2527C>T MANE Select	NP_001094.1:p.Pro843Ser
NM_001278344.2:c.1903C>T	NP_001265273.1:p.Pro635Ser