Canonical Allele Identifier: CA2487053168
Gene: ACTN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236762438A= , CM000663.2:g.236762438A= GRCh38
NC_000001.10:g.236925738A= , CM000663.1:g.236925738A= GRCh37
NC_000001.9:g.234992361A= NCBI36
NG_009081.1:g.80969A=
NG_009081.2:g.103298A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000542672.7:c.2527-23A= ENSP00000443495.1:n.2527-23A=
ENST00000461367.2:n.823-23A=
ENST00000492634.7:n.2457-23A=
ENST00000682015.1:c.2434-23A= ENSP00000506961.1:n.2434-23A=
ENST00000682490.1:n.445-23A=
ENST00000682692.1:n.3622-23A=
ENST00000682966.1:n.8168-23A=
ENST00000683111.1:c.*1813-23A= ENSP00000507913.1:n.*1813-23A=
ENST00000683322.1:n.3879-23A=
ENST00000683805.1:n.1318-23A=
ENST00000684050.1:n.5165-23A=
ENST00000684122.1:n.1938A=
ENST00000684286.1:n.4082-23A=
ENST00000684502.1:n.3824-23A=
ENST00000684763.1:n.1142-23A=
ENST00000366578.6:c.2527-23A= MANE Select ENSP00000355537.4:n.2527-23A=
ENST00000492634.6:n.2457-23A=
ENST00000542672.6:c.2527-23A= ENSP00000443495.1:n.2527-23A=
ENST00000651091.1:c.2217-23A= ENSP00000498677.1:n.2217-23A=
ENST00000651275.1:c.2419-23A= ENSP00000498926.1:n.2419-23A=
ENST00000651781.1:c.1607-23A=
ENST00000651786.1:c.*1899-23A= ENSP00000498364.1:n.*1899-23A=
ENST00000652096.1:c.*1932-23A= ENSP00000498896.1:n.*1932-23A=
ENST00000366578.5:c.2527-23A= ENSP00000355537.4:n.2527-23A=
ENST00000461367.1:n.736-23A=
ENST00000542672.5:c.2527-23A= ENSP00000443495.1:n.2527-23A=
ENST00000546208.5:c.1903-23A= ENSP00000438384.2:n.1903-23A=
NM_001103.3:c.2527-23A= NP_001094.1:n.2527-23A=
NM_001278343.1:c.2527-23A= NP_001265272.1:n.2527-23A=
NM_001278344.1:c.1903-23A= NP_001265273.1:n.1903-23A=
NM_001278343.2:c.2527-23A= NP_001265272.1:n.2527-23A=
NM_001103.4:c.2527-23A= MANE Select NP_001094.1:n.2527-23A=
NM_001278344.2:c.1903-23A= NP_001265273.1:n.1903-23A=