Canonical Allele Identifier: CA2487053267
Gene: ACTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236762657A= , CM000663.2:g.236762657A= GRCh38
NC_000001.10:g.236925957A= , CM000663.1:g.236925957A= GRCh37
NC_000001.9:g.234992580A= NCBI36
NG_009081.1:g.81188A=
NG_009081.2:g.103517A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000542672.7:c.*38A= ENSP00000443495.1:n.*38A=
ENST00000461367.2:n.1019A=
ENST00000492634.7:n.2653A=
ENST00000682015.1:c.*38A= ENSP00000506961.1:n.*38A=
ENST00000682490.1:n.641A=
ENST00000682692.1:n.3818A=
ENST00000682966.1:n.8364A=
ENST00000683111.1:c.*2009A= ENSP00000507913.1:n.*2009A=
ENST00000683322.1:n.4075A=
ENST00000683805.1:n.1514A=
ENST00000684050.1:n.5361A=
ENST00000684122.1:n.2157A=
ENST00000684286.1:n.4278A=
ENST00000684502.1:n.4020A=
ENST00000684763.1:n.1338A=
ENST00000366578.6:c.*38A= MANE Select ENSP00000355537.4:n.*38A=
ENST00000492634.6:n.2653A=
ENST00000542672.6:c.*38A= ENSP00000443495.1:n.*38A=
ENST00000651275.1:c.2615A= ENSP00000498926.1:n.2615A=
ENST00000651781.1:c.1803A=
ENST00000651786.1:c.*2095A= ENSP00000498364.1:n.*2095A=
ENST00000652096.1:c.*2128A= ENSP00000498896.1:n.*2128A=
ENST00000366578.5:c.*38A= ENSP00000355537.4:n.*38A=
ENST00000542672.5:c.*38A= ENSP00000443495.1:n.*38A=
ENST00000546208.5:c.*38A= ENSP00000438384.2:n.*38A=
NM_001103.3:c.*38A= NP_001094.1:n.*38A=
NM_001278343.1:c.*38A= NP_001265272.1:n.*38A=
NM_001278344.1:c.*38A= NP_001265273.1:n.*38A=
NM_001278343.2:c.*38A= NP_001265272.1:n.*38A=
NM_001103.4:c.*38A= MANE Select NP_001094.1:n.*38A=
NM_001278344.2:c.*38A= NP_001265273.1:n.*38A=