Canonical Allele Identifier: CA345392689

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925899T>G (hg19) ; chr1:g.236762599T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762599T>G , CM000663.2:g.236762599T>G	GRCh38
NC_000001.10:g.236925899T>G , CM000663.1:g.236925899T>G	GRCh37
NC_000001.9:g.234992522T>G	NCBI36
NG_009081.1:g.81130T>G
NG_009081.2:g.103459T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2665T>G	ENSP00000443495.1:p.Tyr889Asp
ENST00000461367.2:n.961T>G
ENST00000492634.7:n.2595T>G
ENST00000682015.1:c.2572T>G	ENSP00000506961.1:p.Tyr858Asp
ENST00000682490.1:n.583T>G
ENST00000682692.1:n.3760T>G
ENST00000682966.1:n.8306T>G
ENST00000683111.1:c.*1951T>G	ENSP00000507913.1:n.*1951T>G
ENST00000683322.1:n.4017T>G
ENST00000683805.1:n.1456T>G
ENST00000684050.1:n.5303T>G
ENST00000684122.1:n.2099T>G
ENST00000684286.1:n.4220T>G
ENST00000684502.1:n.3962T>G
ENST00000684763.1:n.1280T>G
ENST00000366578.6:c.2665T>G MANE Select	ENSP00000355537.4:p.Tyr889Asp
ENST00000492634.6:n.2595T>G
ENST00000542672.6:c.2665T>G	ENSP00000443495.1:p.Tyr889Asp
ENST00000651275.1:c.2557T>G	ENSP00000498926.1:p.Tyr853Asp
ENST00000651781.1:c.1745T>G
ENST00000651786.1:c.*2037T>G	ENSP00000498364.1:n.*2037T>G
ENST00000652096.1:c.*2070T>G	ENSP00000498896.1:n.*2070T>G
ENST00000366578.5:c.2665T>G	ENSP00000355537.4:p.Tyr889Asp
ENST00000542672.5:c.2665T>G	ENSP00000443495.1:p.Tyr889Asp
ENST00000546208.5:c.2041T>G	ENSP00000438384.2:p.Tyr681Asp
NM_001103.3:c.2665T>G	NP_001094.1:p.Tyr889Asp
NM_001278343.1:c.2665T>G	NP_001265272.1:p.Tyr889Asp
NM_001278344.1:c.2041T>G	NP_001265273.1:p.Tyr681Asp
NM_001278343.2:c.2665T>G	NP_001265272.1:p.Tyr889Asp
NM_001103.4:c.2665T>G MANE Select	NP_001094.1:p.Tyr889Asp
NM_001278344.2:c.2041T>G	NP_001265273.1:p.Tyr681Asp