Canonical Allele Identifier: CA345387583

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918408T>G (hg19) ; chr1:g.236755108T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755108T>G , CM000663.2:g.236755108T>G	GRCh38
NC_000001.10:g.236918408T>G , CM000663.1:g.236918408T>G	GRCh37
NC_000001.9:g.234985031T>G	NCBI36
NG_009081.1:g.73639T>G
NG_009081.2:g.95968T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2064T>G	ENSP00000443495.1:p.Tyr688Ter
ENST00000461367.2:n.360T>G
ENST00000492634.7:n.1994T>G
ENST00000682015.1:c.1971T>G	ENSP00000506961.1:p.Tyr657Ter
ENST00000682692.1:n.3159T>G
ENST00000682966.1:n.7705T>G
ENST00000683111.1:c.*1350T>G	ENSP00000507913.1:n.*1350T>G
ENST00000683322.1:n.3416T>G
ENST00000683805.1:n.855T>G
ENST00000684050.1:n.4702T>G
ENST00000684122.1:n.211T>G
ENST00000684286.1:n.3619T>G
ENST00000684502.1:n.3361T>G
ENST00000684763.1:n.679T>G
ENST00000366578.6:c.2064T>G MANE Select	ENSP00000355537.4:p.Tyr688Ter
ENST00000492634.6:n.1994T>G
ENST00000542672.6:c.2064T>G	ENSP00000443495.1:p.Tyr688Ter
ENST00000651091.1:c.1754T>G	ENSP00000498677.1:n.1754T>G
ENST00000651275.1:c.1956T>G	ENSP00000498926.1:p.Tyr652Ter
ENST00000651781.1:c.1144T>G
ENST00000651786.1:c.*1436T>G	ENSP00000498364.1:n.*1436T>G
ENST00000652096.1:c.*1469T>G	ENSP00000498896.1:n.*1469T>G
ENST00000366578.5:c.2064T>G	ENSP00000355537.4:p.Tyr688Ter
ENST00000461367.1:n.273T>G
ENST00000542672.5:c.2064T>G	ENSP00000443495.1:p.Tyr688Ter
ENST00000546208.5:c.1440T>G	ENSP00000438384.2:p.Tyr480Ter
NM_001103.3:c.2064T>G	NP_001094.1:p.Tyr688Ter
NM_001278343.1:c.2064T>G	NP_001265272.1:p.Tyr688Ter
NM_001278344.1:c.1440T>G	NP_001265273.1:p.Tyr480Ter
NM_001278343.2:c.2064T>G	NP_001265272.1:p.Tyr688Ter
NM_001103.4:c.2064T>G MANE Select	NP_001094.1:p.Tyr688Ter
NM_001278344.2:c.1440T>G	NP_001265273.1:p.Tyr480Ter