Canonical Allele Identifier: CA345387567

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918401T>C (hg19) ; chr1:g.236755101T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755101T>C , CM000663.2:g.236755101T>C	GRCh38
NC_000001.10:g.236918401T>C , CM000663.1:g.236918401T>C	GRCh37
NC_000001.9:g.234985024T>C	NCBI36
NG_009081.1:g.73632T>C
NG_009081.2:g.95961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2057T>C	ENSP00000443495.1:p.Ile686Thr
ENST00000461367.2:n.353T>C
ENST00000492634.7:n.1987T>C
ENST00000682015.1:c.1964T>C	ENSP00000506961.1:p.Ile655Thr
ENST00000682692.1:n.3152T>C
ENST00000682966.1:n.7698T>C
ENST00000683111.1:c.*1343T>C	ENSP00000507913.1:n.*1343T>C
ENST00000683322.1:n.3409T>C
ENST00000683805.1:n.848T>C
ENST00000684050.1:n.4695T>C
ENST00000684122.1:n.204T>C
ENST00000684286.1:n.3612T>C
ENST00000684502.1:n.3354T>C
ENST00000684763.1:n.672T>C
ENST00000366578.6:c.2057T>C MANE Select	ENSP00000355537.4:p.Ile686Thr
ENST00000492634.6:n.1987T>C
ENST00000542672.6:c.2057T>C	ENSP00000443495.1:p.Ile686Thr
ENST00000651091.1:c.1747T>C	ENSP00000498677.1:n.1747T>C
ENST00000651275.1:c.1949T>C	ENSP00000498926.1:p.Ile650Thr
ENST00000651781.1:c.1137T>C
ENST00000651786.1:c.*1429T>C	ENSP00000498364.1:n.*1429T>C
ENST00000652096.1:c.*1462T>C	ENSP00000498896.1:n.*1462T>C
ENST00000366578.5:c.2057T>C	ENSP00000355537.4:p.Ile686Thr
ENST00000461367.1:n.266T>C
ENST00000542672.5:c.2057T>C	ENSP00000443495.1:p.Ile686Thr
ENST00000546208.5:c.1433T>C	ENSP00000438384.2:p.Ile478Thr
NM_001103.3:c.2057T>C	NP_001094.1:p.Ile686Thr
NM_001278343.1:c.2057T>C	NP_001265272.1:p.Ile686Thr
NM_001278344.1:c.1433T>C	NP_001265273.1:p.Ile478Thr
NM_001278343.2:c.2057T>C	NP_001265272.1:p.Ile686Thr
NM_001103.4:c.2057T>C MANE Select	NP_001094.1:p.Ile686Thr
NM_001278344.2:c.1433T>C	NP_001265273.1:p.Ile478Thr