Canonical Allele Identifier: CA345387751

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918481A>C (hg19) ; chr1:g.236755181A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755181A>C , CM000663.2:g.236755181A>C	GRCh38
NC_000001.10:g.236918481A>C , CM000663.1:g.236918481A>C	GRCh37
NC_000001.9:g.234985104A>C	NCBI36
NG_009081.1:g.73712A>C
NG_009081.2:g.96041A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2137A>C	ENSP00000443495.1:p.Thr713Pro
ENST00000461367.2:n.433A>C
ENST00000492634.7:n.2067A>C
ENST00000682015.1:c.2044A>C	ENSP00000506961.1:p.Thr682Pro
ENST00000682692.1:n.3232A>C
ENST00000682966.1:n.7778A>C
ENST00000683111.1:c.*1423A>C	ENSP00000507913.1:n.*1423A>C
ENST00000683322.1:n.3489A>C
ENST00000683805.1:n.928A>C
ENST00000684050.1:n.4775A>C
ENST00000684122.1:n.284A>C
ENST00000684286.1:n.3692A>C
ENST00000684502.1:n.3434A>C
ENST00000684763.1:n.752A>C
ENST00000366578.6:c.2137A>C MANE Select	ENSP00000355537.4:p.Thr713Pro
ENST00000492634.6:n.2067A>C
ENST00000542672.6:c.2137A>C	ENSP00000443495.1:p.Thr713Pro
ENST00000651091.1:c.1827A>C	ENSP00000498677.1:n.1827A>C
ENST00000651275.1:c.2029A>C	ENSP00000498926.1:p.Thr677Pro
ENST00000651781.1:c.1217A>C
ENST00000651786.1:c.*1509A>C	ENSP00000498364.1:n.*1509A>C
ENST00000652096.1:c.*1542A>C	ENSP00000498896.1:n.*1542A>C
ENST00000366578.5:c.2137A>C	ENSP00000355537.4:p.Thr713Pro
ENST00000461367.1:n.346A>C
ENST00000542672.5:c.2137A>C	ENSP00000443495.1:p.Thr713Pro
ENST00000546208.5:c.1513A>C	ENSP00000438384.2:p.Thr505Pro
NM_001103.3:c.2137A>C	NP_001094.1:p.Thr713Pro
NM_001278343.1:c.2137A>C	NP_001265272.1:p.Thr713Pro
NM_001278344.1:c.1513A>C	NP_001265273.1:p.Thr505Pro
NM_001278343.2:c.2137A>C	NP_001265272.1:p.Thr713Pro
NM_001103.4:c.2137A>C MANE Select	NP_001094.1:p.Thr713Pro
NM_001278344.2:c.1513A>C	NP_001265273.1:p.Thr505Pro