Canonical Allele Identifier: CA345383906

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911008G>C (hg19) ; chr1:g.236747708G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747708G>C , CM000663.2:g.236747708G>C	GRCh38
NC_000001.10:g.236911008G>C , CM000663.1:g.236911008G>C	GRCh37
NC_000001.9:g.234977631G>C	NCBI36
NG_009081.1:g.66239G>C
NG_009081.2:g.88568G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1448G>C	ENSP00000443495.1:p.Cys483Ser
ENST00000492634.7:n.1378G>C
ENST00000682015.1:c.1355G>C	ENSP00000506961.1:p.Cys452Ser
ENST00000682692.1:n.1195G>C
ENST00000682966.1:n.7089G>C
ENST00000683111.1:c.*734G>C	ENSP00000507913.1:n.*734G>C
ENST00000683322.1:n.2800G>C
ENST00000684050.1:n.4086G>C
ENST00000684286.1:n.3003G>C
ENST00000684502.1:n.1397G>C
ENST00000366578.6:c.1448G>C MANE Select	ENSP00000355537.4:p.Cys483Ser
ENST00000492634.6:n.1378G>C
ENST00000542672.6:c.1448G>C	ENSP00000443495.1:p.Cys483Ser
ENST00000651091.1:c.1138G>C	ENSP00000498677.1:n.1138G>C
ENST00000651275.1:c.1340G>C	ENSP00000498926.1:p.Cys447Ser
ENST00000651781.1:c.528G>C
ENST00000651786.1:c.*820G>C	ENSP00000498364.1:n.*820G>C
ENST00000652096.1:c.*853G>C	ENSP00000498896.1:n.*853G>C
ENST00000366578.5:c.1448G>C	ENSP00000355537.4:p.Cys483Ser
ENST00000492101.1:n.9G>C
ENST00000542672.5:c.1448G>C	ENSP00000443495.1:p.Cys483Ser
ENST00000546208.5:c.824G>C	ENSP00000438384.2:p.Cys275Ser
NM_001103.3:c.1448G>C	NP_001094.1:p.Cys483Ser
NM_001278343.1:c.1448G>C	NP_001265272.1:p.Cys483Ser
NM_001278344.1:c.824G>C	NP_001265273.1:p.Cys275Ser
NM_001278343.2:c.1448G>C	NP_001265272.1:p.Cys483Ser
NM_001103.4:c.1448G>C MANE Select	NP_001094.1:p.Cys483Ser
NM_001278344.2:c.824G>C	NP_001265273.1:p.Cys275Ser