Canonical Allele Identifier: CA2487053265

Gene: ACTN2

Linked Data

• dbSNP Id: rs1659746501

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762652A>T , CM000663.2:g.236762652A>T	GRCh38
NC_000001.10:g.236925952A>T , CM000663.1:g.236925952A>T	GRCh37
NC_000001.9:g.234992575A>T	NCBI36
NG_009081.1:g.81183A>T
NG_009081.2:g.103512A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*33A>T	ENSP00000443495.1:n.*33A>T
ENST00000461367.2:n.1014A>T
ENST00000492634.7:n.2648A>T
ENST00000682015.1:c.*33A>T	ENSP00000506961.1:n.*33A>T
ENST00000682490.1:n.636A>T
ENST00000682692.1:n.3813A>T
ENST00000682966.1:n.8359A>T
ENST00000683111.1:c.*2004A>T	ENSP00000507913.1:n.*2004A>T
ENST00000683322.1:n.4070A>T
ENST00000683805.1:n.1509A>T
ENST00000684050.1:n.5356A>T
ENST00000684122.1:n.2152A>T
ENST00000684286.1:n.4273A>T
ENST00000684502.1:n.4015A>T
ENST00000684763.1:n.1333A>T
ENST00000366578.6:c.*33A>T MANE Select	ENSP00000355537.4:n.*33A>T
ENST00000492634.6:n.2648A>T
ENST00000542672.6:c.*33A>T	ENSP00000443495.1:n.*33A>T
ENST00000651275.1:c.2610A>T	ENSP00000498926.1:n.2610A>T
ENST00000651781.1:c.1798A>T
ENST00000651786.1:c.*2090A>T	ENSP00000498364.1:n.*2090A>T
ENST00000652096.1:c.*2123A>T	ENSP00000498896.1:n.*2123A>T
ENST00000366578.5:c.*33A>T	ENSP00000355537.4:n.*33A>T
ENST00000542672.5:c.*33A>T	ENSP00000443495.1:n.*33A>T
ENST00000546208.5:c.*33A>T	ENSP00000438384.2:n.*33A>T
NM_001103.3:c.*33A>T	NP_001094.1:n.*33A>T
NM_001278343.1:c.*33A>T	NP_001265272.1:n.*33A>T
NM_001278344.1:c.*33A>T	NP_001265273.1:n.*33A>T
NM_001278343.2:c.*33A>T	NP_001265272.1:n.*33A>T
NM_001103.4:c.*33A>T MANE Select	NP_001094.1:n.*33A>T
NM_001278344.2:c.*33A>T	NP_001265273.1:n.*33A>T