Canonical Allele Identifier: CA345388652

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920801T>G (hg19) ; chr1:g.236757501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757501T>G , CM000663.2:g.236757501T>G	GRCh38
NC_000001.10:g.236920801T>G , CM000663.1:g.236920801T>G	GRCh37
NC_000001.9:g.234987424T>G	NCBI36
NG_009081.1:g.76032T>G
NG_009081.2:g.98361T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2170T>G	ENSP00000443495.1:p.Trp724Gly
ENST00000461367.2:n.466T>G
ENST00000492634.7:n.2100T>G
ENST00000682015.1:c.2077T>G	ENSP00000506961.1:p.Trp693Gly
ENST00000682490.1:n.88T>G
ENST00000682692.1:n.3265T>G
ENST00000682966.1:n.7811T>G
ENST00000683111.1:c.*1456T>G	ENSP00000507913.1:n.*1456T>G
ENST00000683322.1:n.3522T>G
ENST00000683805.1:n.961T>G
ENST00000684050.1:n.4808T>G
ENST00000684122.1:n.317T>G
ENST00000684286.1:n.3725T>G
ENST00000684502.1:n.3467T>G
ENST00000684763.1:n.785T>G
ENST00000366578.6:c.2170T>G MANE Select	ENSP00000355537.4:p.Trp724Gly
ENST00000492634.6:n.2100T>G
ENST00000542672.6:c.2170T>G	ENSP00000443495.1:p.Trp724Gly
ENST00000651091.1:c.1860T>G	ENSP00000498677.1:n.1860T>G
ENST00000651275.1:c.2062T>G	ENSP00000498926.1:p.Trp688Gly
ENST00000651781.1:c.1250T>G
ENST00000651786.1:c.*1542T>G	ENSP00000498364.1:n.*1542T>G
ENST00000652096.1:c.*1575T>G	ENSP00000498896.1:n.*1575T>G
ENST00000366578.5:c.2170T>G	ENSP00000355537.4:p.Trp724Gly
ENST00000461367.1:n.379T>G
ENST00000542672.5:c.2170T>G	ENSP00000443495.1:p.Trp724Gly
ENST00000546208.5:c.1546T>G	ENSP00000438384.2:p.Trp516Gly
NM_001103.3:c.2170T>G	NP_001094.1:p.Trp724Gly
NM_001278343.1:c.2170T>G	NP_001265272.1:p.Trp724Gly
NM_001278344.1:c.1546T>G	NP_001265273.1:p.Trp516Gly
NM_001278343.2:c.2170T>G	NP_001265272.1:p.Trp724Gly
NM_001103.4:c.2170T>G MANE Select	NP_001094.1:p.Trp724Gly
NM_001278344.2:c.1546T>G	NP_001265273.1:p.Trp516Gly