Canonical Allele Identifier: CA423811196

Gene: ACTN2

Linked Data

• COSMIC: COSM4029861
• MyVariant Identifiers: chr1:g.236925859G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762559G>A , CM000663.2:g.236762559G>A	GRCh38
NC_000001.10:g.236925859G>A , CM000663.1:g.236925859G>A	GRCh37
NC_000001.9:g.234992482G>A	NCBI36
NG_009081.1:g.81090G>A
NG_009081.2:g.103419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2625G>A	ENSP00000443495.1:p.Val875=
ENST00000461367.2:n.921G>A
ENST00000492634.7:n.2555G>A
ENST00000682015.1:c.2532G>A	ENSP00000506961.1:p.Val844=
ENST00000682490.1:n.543G>A
ENST00000682692.1:n.3720G>A
ENST00000682966.1:n.8266G>A
ENST00000683111.1:c.*1911G>A	ENSP00000507913.1:n.*1911G>A
ENST00000683322.1:n.3977G>A
ENST00000683805.1:n.1416G>A
ENST00000684050.1:n.5263G>A
ENST00000684122.1:n.2059G>A
ENST00000684286.1:n.4180G>A
ENST00000684502.1:n.3922G>A
ENST00000684763.1:n.1240G>A
ENST00000366578.6:c.2625G>A MANE Select	ENSP00000355537.4:p.Val875=
ENST00000492634.6:n.2555G>A
ENST00000542672.6:c.2625G>A	ENSP00000443495.1:p.Val875=
ENST00000651091.1:c.2315G>A	ENSP00000498677.1:n.2315G>A
ENST00000651275.1:c.2517G>A	ENSP00000498926.1:p.Val839=
ENST00000651781.1:c.1705G>A
ENST00000651786.1:c.*1997G>A	ENSP00000498364.1:n.*1997G>A
ENST00000652096.1:c.*2030G>A	ENSP00000498896.1:n.*2030G>A
ENST00000366578.5:c.2625G>A	ENSP00000355537.4:p.Val875=
ENST00000461367.1:n.834G>A
ENST00000542672.5:c.2625G>A	ENSP00000443495.1:p.Val875=
ENST00000546208.5:c.2001G>A	ENSP00000438384.2:p.Val667=
NM_001103.3:c.2625G>A	NP_001094.1:p.Val875=
NM_001278343.1:c.2625G>A	NP_001265272.1:p.Val875=
NM_001278344.1:c.2001G>A	NP_001265273.1:p.Val667=
NM_001278343.2:c.2625G>A	NP_001265272.1:p.Val875=
NM_001103.4:c.2625G>A MANE Select	NP_001094.1:p.Val875=
NM_001278344.2:c.2001G>A	NP_001265273.1:p.Val667=