Canonical Allele Identifier: CA423811206

Gene: ACTN2

Linked Data

• dbSNP Id: rs1572153502
• COSMIC: COSM4886335 ; COSM4886336
• MyVariant Identifiers: chr1:g.236925862T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762562T>C , CM000663.2:g.236762562T>C	GRCh38
NC_000001.10:g.236925862T>C , CM000663.1:g.236925862T>C	GRCh37
NC_000001.9:g.234992485T>C	NCBI36
NG_009081.1:g.81093T>C
NG_009081.2:g.103422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2628T>C	ENSP00000443495.1:p.Pro876=
ENST00000461367.2:n.924T>C
ENST00000492634.7:n.2558T>C
ENST00000682015.1:c.2535T>C	ENSP00000506961.1:p.Pro845=
ENST00000682490.1:n.546T>C
ENST00000682692.1:n.3723T>C
ENST00000682966.1:n.8269T>C
ENST00000683111.1:c.*1914T>C	ENSP00000507913.1:n.*1914T>C
ENST00000683322.1:n.3980T>C
ENST00000683805.1:n.1419T>C
ENST00000684050.1:n.5266T>C
ENST00000684122.1:n.2062T>C
ENST00000684286.1:n.4183T>C
ENST00000684502.1:n.3925T>C
ENST00000684763.1:n.1243T>C
ENST00000366578.6:c.2628T>C MANE Select	ENSP00000355537.4:p.Pro876=
ENST00000492634.6:n.2558T>C
ENST00000542672.6:c.2628T>C	ENSP00000443495.1:p.Pro876=
ENST00000651091.1:c.2318T>C	ENSP00000498677.1:n.2318T>C
ENST00000651275.1:c.2520T>C	ENSP00000498926.1:p.Pro840=
ENST00000651781.1:c.1708T>C
ENST00000651786.1:c.*2000T>C	ENSP00000498364.1:n.*2000T>C
ENST00000652096.1:c.*2033T>C	ENSP00000498896.1:n.*2033T>C
ENST00000366578.5:c.2628T>C	ENSP00000355537.4:p.Pro876=
ENST00000461367.1:n.837T>C
ENST00000542672.5:c.2628T>C	ENSP00000443495.1:p.Pro876=
ENST00000546208.5:c.2004T>C	ENSP00000438384.2:p.Pro668=
NM_001103.3:c.2628T>C	NP_001094.1:p.Pro876=
NM_001278343.1:c.2628T>C	NP_001265272.1:p.Pro876=
NM_001278344.1:c.2004T>C	NP_001265273.1:p.Pro668=
NM_001278343.2:c.2628T>C	NP_001265272.1:p.Pro876=
NM_001103.4:c.2628T>C MANE Select	NP_001094.1:p.Pro876=
NM_001278344.2:c.2004T>C	NP_001265273.1:p.Pro668=