Canonical Allele Identifier: CA345387565

Gene: ACTN2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2057T>G	ENSP00000443495.1:p.Ile686Ser
ENST00000461367.2:n.353T>G
ENST00000492634.7:n.1987T>G
ENST00000682015.1:c.1964T>G	ENSP00000506961.1:p.Ile655Ser
ENST00000682692.1:n.3152T>G
ENST00000682966.1:n.7698T>G
ENST00000683111.1:c.*1343T>G	ENSP00000507913.1:n.*1343T>G
ENST00000683322.1:n.3409T>G
ENST00000683805.1:n.848T>G
ENST00000684050.1:n.4695T>G
ENST00000684122.1:n.204T>G
ENST00000684286.1:n.3612T>G
ENST00000684502.1:n.3354T>G
ENST00000684763.1:n.672T>G
ENST00000366578.6:c.2057T>G MANE Select	ENSP00000355537.4:p.Ile686Ser
ENST00000492634.6:n.1987T>G
ENST00000542672.6:c.2057T>G	ENSP00000443495.1:p.Ile686Ser
ENST00000651091.1:c.1747T>G	ENSP00000498677.1:n.1747T>G
ENST00000651275.1:c.1949T>G	ENSP00000498926.1:p.Ile650Ser
ENST00000651781.1:c.1137T>G
ENST00000651786.1:c.*1429T>G	ENSP00000498364.1:n.*1429T>G
ENST00000652096.1:c.*1462T>G	ENSP00000498896.1:n.*1462T>G
ENST00000366578.5:c.2057T>G	ENSP00000355537.4:p.Ile686Ser
ENST00000461367.1:n.266T>G
ENST00000542672.5:c.2057T>G	ENSP00000443495.1:p.Ile686Ser
ENST00000546208.5:c.1433T>G	ENSP00000438384.2:p.Ile478Ser
NM_001103.3:c.2057T>G	NP_001094.1:p.Ile686Ser
NM_001278343.1:c.2057T>G	NP_001265272.1:p.Ile686Ser
NM_001278344.1:c.1433T>G	NP_001265273.1:p.Ile478Ser
NM_001278343.2:c.2057T>G	NP_001265272.1:p.Ile686Ser
NM_001103.4:c.2057T>G MANE Select	NP_001094.1:p.Ile686Ser
NM_001278344.2:c.1433T>G	NP_001265273.1:p.Ile478Ser