Canonical Allele Identifier: CA345392642

Gene: ACTN2

Linked Data

• COSMIC: COSM3864865
• MyVariant Identifiers: chr1:g.236925888C>T (hg19) ; chr1:g.236762588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762588C>T , CM000663.2:g.236762588C>T	GRCh38
NC_000001.10:g.236925888C>T , CM000663.1:g.236925888C>T	GRCh37
NC_000001.9:g.234992511C>T	NCBI36
NG_009081.1:g.81119C>T
NG_009081.2:g.103448C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2654C>T	ENSP00000443495.1:p.Ser885Phe
ENST00000461367.2:n.950C>T
ENST00000492634.7:n.2584C>T
ENST00000682015.1:c.2561C>T	ENSP00000506961.1:p.Ser854Phe
ENST00000682490.1:n.572C>T
ENST00000682692.1:n.3749C>T
ENST00000682966.1:n.8295C>T
ENST00000683111.1:c.*1940C>T	ENSP00000507913.1:n.*1940C>T
ENST00000683322.1:n.4006C>T
ENST00000683805.1:n.1445C>T
ENST00000684050.1:n.5292C>T
ENST00000684122.1:n.2088C>T
ENST00000684286.1:n.4209C>T
ENST00000684502.1:n.3951C>T
ENST00000684763.1:n.1269C>T
ENST00000366578.6:c.2654C>T MANE Select	ENSP00000355537.4:p.Ser885Phe
ENST00000492634.6:n.2584C>T
ENST00000542672.6:c.2654C>T	ENSP00000443495.1:p.Ser885Phe
ENST00000651091.1:c.2344C>T	ENSP00000498677.1:n.2344C>T
ENST00000651275.1:c.2546C>T	ENSP00000498926.1:p.Ser849Phe
ENST00000651781.1:c.1734C>T
ENST00000651786.1:c.*2026C>T	ENSP00000498364.1:n.*2026C>T
ENST00000652096.1:c.*2059C>T	ENSP00000498896.1:n.*2059C>T
ENST00000366578.5:c.2654C>T	ENSP00000355537.4:p.Ser885Phe
ENST00000542672.5:c.2654C>T	ENSP00000443495.1:p.Ser885Phe
ENST00000546208.5:c.2030C>T	ENSP00000438384.2:p.Ser677Phe
NM_001103.3:c.2654C>T	NP_001094.1:p.Ser885Phe
NM_001278343.1:c.2654C>T	NP_001265272.1:p.Ser885Phe
NM_001278344.1:c.2030C>T	NP_001265273.1:p.Ser677Phe
NM_001278343.2:c.2654C>T	NP_001265272.1:p.Ser885Phe
NM_001103.4:c.2654C>T MANE Select	NP_001094.1:p.Ser885Phe
NM_001278344.2:c.2030C>T	NP_001265273.1:p.Ser677Phe