Canonical Allele Identifier: CA2651182233

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236754117-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754117C>A , CM000663.2:g.236754117C>A	GRCh38
NC_000001.10:g.236917417C>A , CM000663.1:g.236917417C>A	GRCh37
NC_000001.9:g.234984040C>A	NCBI36
NG_009081.1:g.72648C>A
NG_009081.2:g.94977C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1974+36C>A	ENSP00000443495.1:n.1974+36C>A
ENST00000461367.2:n.270+36C>A
ENST00000492634.7:n.1904+36C>A
ENST00000682015.1:c.1881+36C>A	ENSP00000506961.1:n.1881+36C>A
ENST00000682692.1:n.3069+36C>A
ENST00000682966.1:n.7615+36C>A
ENST00000683111.1:c.*1260+36C>A	ENSP00000507913.1:n.*1260+36C>A
ENST00000683322.1:n.3326+36C>A
ENST00000684050.1:n.4612+36C>A
ENST00000684286.1:n.3529+36C>A
ENST00000684502.1:n.3271+36C>A
ENST00000684763.1:n.589+36C>A
ENST00000366578.6:c.1974+36C>A MANE Select	ENSP00000355537.4:n.1974+36C>A
ENST00000492634.6:n.1904+36C>A
ENST00000542672.6:c.1974+36C>A	ENSP00000443495.1:n.1974+36C>A
ENST00000651091.1:c.1664+36C>A	ENSP00000498677.1:n.1664+36C>A
ENST00000651275.1:c.1866+36C>A	ENSP00000498926.1:n.1866+36C>A
ENST00000651781.1:c.1054+36C>A
ENST00000651786.1:c.*1346+36C>A	ENSP00000498364.1:n.*1346+36C>A
ENST00000652096.1:c.*1379+36C>A	ENSP00000498896.1:n.*1379+36C>A
ENST00000366578.5:c.1974+36C>A	ENSP00000355537.4:n.1974+36C>A
ENST00000461367.1:n.183+36C>A
ENST00000542672.5:c.1974+36C>A	ENSP00000443495.1:n.1974+36C>A
ENST00000546208.5:c.1350+36C>A	ENSP00000438384.2:n.1350+36C>A
NM_001103.3:c.1974+36C>A	NP_001094.1:n.1974+36C>A
NM_001278343.1:c.1974+36C>A	NP_001265272.1:n.1974+36C>A
NM_001278344.1:c.1350+36C>A	NP_001265273.1:n.1350+36C>A
NM_001278343.2:c.1974+36C>A	NP_001265272.1:n.1974+36C>A
NM_001103.4:c.1974+36C>A MANE Select	NP_001094.1:n.1974+36C>A
NM_001278344.2:c.1350+36C>A	NP_001265273.1:n.1350+36C>A