Canonical Allele Identifier: CA345387657

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918440A>T (hg19) ; chr1:g.236755140A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755140A>T , CM000663.2:g.236755140A>T	GRCh38
NC_000001.10:g.236918440A>T , CM000663.1:g.236918440A>T	GRCh37
NC_000001.9:g.234985063A>T	NCBI36
NG_009081.1:g.73671A>T
NG_009081.2:g.96000A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2096A>T	ENSP00000443495.1:p.His699Leu
ENST00000461367.2:n.392A>T
ENST00000492634.7:n.2026A>T
ENST00000682015.1:c.2003A>T	ENSP00000506961.1:p.His668Leu
ENST00000682692.1:n.3191A>T
ENST00000682966.1:n.7737A>T
ENST00000683111.1:c.*1382A>T	ENSP00000507913.1:n.*1382A>T
ENST00000683322.1:n.3448A>T
ENST00000683805.1:n.887A>T
ENST00000684050.1:n.4734A>T
ENST00000684122.1:n.243A>T
ENST00000684286.1:n.3651A>T
ENST00000684502.1:n.3393A>T
ENST00000684763.1:n.711A>T
ENST00000366578.6:c.2096A>T MANE Select	ENSP00000355537.4:p.His699Leu
ENST00000492634.6:n.2026A>T
ENST00000542672.6:c.2096A>T	ENSP00000443495.1:p.His699Leu
ENST00000651091.1:c.1786A>T	ENSP00000498677.1:n.1786A>T
ENST00000651275.1:c.1988A>T	ENSP00000498926.1:p.His663Leu
ENST00000651781.1:c.1176A>T
ENST00000651786.1:c.*1468A>T	ENSP00000498364.1:n.*1468A>T
ENST00000652096.1:c.*1501A>T	ENSP00000498896.1:n.*1501A>T
ENST00000366578.5:c.2096A>T	ENSP00000355537.4:p.His699Leu
ENST00000461367.1:n.305A>T
ENST00000542672.5:c.2096A>T	ENSP00000443495.1:p.His699Leu
ENST00000546208.5:c.1472A>T	ENSP00000438384.2:p.His491Leu
NM_001103.3:c.2096A>T	NP_001094.1:p.His699Leu
NM_001278343.1:c.2096A>T	NP_001265272.1:p.His699Leu
NM_001278344.1:c.1472A>T	NP_001265273.1:p.His491Leu
NM_001278343.2:c.2096A>T	NP_001265272.1:p.His699Leu
NM_001103.4:c.2096A>T MANE Select	NP_001094.1:p.His699Leu
NM_001278344.2:c.1472A>T	NP_001265273.1:p.His491Leu