Canonical Allele Identifier: CA345392693

Gene: ACTN2

Linked Data

• COSMIC: COSM679993
• MyVariant Identifiers: chr1:g.236925901C>A (hg19) ; chr1:g.236762601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762601C>A , CM000663.2:g.236762601C>A	GRCh38
NC_000001.10:g.236925901C>A , CM000663.1:g.236925901C>A	GRCh37
NC_000001.9:g.234992524C>A	NCBI36
NG_009081.1:g.81132C>A
NG_009081.2:g.103461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2667C>A	ENSP00000443495.1:p.Tyr889Ter
ENST00000461367.2:n.963C>A
ENST00000492634.7:n.2597C>A
ENST00000682015.1:c.2574C>A	ENSP00000506961.1:p.Tyr858Ter
ENST00000682490.1:n.585C>A
ENST00000682692.1:n.3762C>A
ENST00000682966.1:n.8308C>A
ENST00000683111.1:c.*1953C>A	ENSP00000507913.1:n.*1953C>A
ENST00000683322.1:n.4019C>A
ENST00000683805.1:n.1458C>A
ENST00000684050.1:n.5305C>A
ENST00000684122.1:n.2101C>A
ENST00000684286.1:n.4222C>A
ENST00000684502.1:n.3964C>A
ENST00000684763.1:n.1282C>A
ENST00000366578.6:c.2667C>A MANE Select	ENSP00000355537.4:p.Tyr889Ter
ENST00000492634.6:n.2597C>A
ENST00000542672.6:c.2667C>A	ENSP00000443495.1:p.Tyr889Ter
ENST00000651275.1:c.2559C>A	ENSP00000498926.1:p.Tyr853Ter
ENST00000651781.1:c.1747C>A
ENST00000651786.1:c.*2039C>A	ENSP00000498364.1:n.*2039C>A
ENST00000652096.1:c.*2072C>A	ENSP00000498896.1:n.*2072C>A
ENST00000366578.5:c.2667C>A	ENSP00000355537.4:p.Tyr889Ter
ENST00000542672.5:c.2667C>A	ENSP00000443495.1:p.Tyr889Ter
ENST00000546208.5:c.2043C>A	ENSP00000438384.2:p.Tyr681Ter
NM_001103.3:c.2667C>A	NP_001094.1:p.Tyr889Ter
NM_001278343.1:c.2667C>A	NP_001265272.1:p.Tyr889Ter
NM_001278344.1:c.2043C>A	NP_001265273.1:p.Tyr681Ter
NM_001278343.2:c.2667C>A	NP_001265272.1:p.Tyr889Ter
NM_001103.4:c.2667C>A MANE Select	NP_001094.1:p.Tyr889Ter
NM_001278344.2:c.2043C>A	NP_001265273.1:p.Tyr681Ter