Canonical Allele Identifier: CA345392595

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925877C>G (hg19) ; chr1:g.236762577C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762577C>G , CM000663.2:g.236762577C>G	GRCh38
NC_000001.10:g.236925877C>G , CM000663.1:g.236925877C>G	GRCh37
NC_000001.9:g.234992500C>G	NCBI36
NG_009081.1:g.81108C>G
NG_009081.2:g.103437C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2643C>G	ENSP00000443495.1:p.Tyr881Ter
ENST00000461367.2:n.939C>G
ENST00000492634.7:n.2573C>G
ENST00000682015.1:c.2550C>G	ENSP00000506961.1:p.Tyr850Ter
ENST00000682490.1:n.561C>G
ENST00000682692.1:n.3738C>G
ENST00000682966.1:n.8284C>G
ENST00000683111.1:c.*1929C>G	ENSP00000507913.1:n.*1929C>G
ENST00000683322.1:n.3995C>G
ENST00000683805.1:n.1434C>G
ENST00000684050.1:n.5281C>G
ENST00000684122.1:n.2077C>G
ENST00000684286.1:n.4198C>G
ENST00000684502.1:n.3940C>G
ENST00000684763.1:n.1258C>G
ENST00000366578.6:c.2643C>G MANE Select	ENSP00000355537.4:p.Tyr881Ter
ENST00000492634.6:n.2573C>G
ENST00000542672.6:c.2643C>G	ENSP00000443495.1:p.Tyr881Ter
ENST00000651091.1:c.2333C>G	ENSP00000498677.1:n.2333C>G
ENST00000651275.1:c.2535C>G	ENSP00000498926.1:p.Tyr845Ter
ENST00000651781.1:c.1723C>G
ENST00000651786.1:c.*2015C>G	ENSP00000498364.1:n.*2015C>G
ENST00000652096.1:c.*2048C>G	ENSP00000498896.1:n.*2048C>G
ENST00000366578.5:c.2643C>G	ENSP00000355537.4:p.Tyr881Ter
ENST00000542672.5:c.2643C>G	ENSP00000443495.1:p.Tyr881Ter
ENST00000546208.5:c.2019C>G	ENSP00000438384.2:p.Tyr673Ter
NM_001103.3:c.2643C>G	NP_001094.1:p.Tyr881Ter
NM_001278343.1:c.2643C>G	NP_001265272.1:p.Tyr881Ter
NM_001278344.1:c.2019C>G	NP_001265273.1:p.Tyr673Ter
NM_001278343.2:c.2643C>G	NP_001265272.1:p.Tyr881Ter
NM_001103.4:c.2643C>G MANE Select	NP_001094.1:p.Tyr881Ter
NM_001278344.2:c.2019C>G	NP_001265273.1:p.Tyr673Ter