Canonical Allele Identifier: CA1013665172

Gene: ACTN2

Linked Data

• gnomAD v3: 1-236762724-G-A
• gnomAD v4: 1-236762724-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762724G>A , CM000663.2:g.236762724G>A	GRCh38
NC_000001.10:g.236926024G>A , CM000663.1:g.236926024G>A	GRCh37
NC_000001.9:g.234992647G>A	NCBI36
NG_009081.1:g.81255G>A
NG_009081.2:g.103584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*105G>A	ENSP00000443495.1:n.*105G>A
ENST00000461367.2:n.1086G>A
ENST00000492634.7:n.2720G>A
ENST00000682015.1:c.*105G>A	ENSP00000506961.1:n.*105G>A
ENST00000682490.1:n.708G>A
ENST00000682692.1:n.3885G>A
ENST00000682966.1:n.8431G>A
ENST00000683111.1:c.*2076G>A	ENSP00000507913.1:n.*2076G>A
ENST00000683322.1:n.4142G>A
ENST00000683805.1:n.1581G>A
ENST00000684050.1:n.5428G>A
ENST00000684122.1:n.2224G>A
ENST00000684286.1:n.4345G>A
ENST00000684502.1:n.4087G>A
ENST00000684763.1:n.1405G>A
ENST00000366578.6:c.*105G>A MANE Select	ENSP00000355537.4:n.*105G>A
ENST00000492634.6:n.2720G>A
ENST00000542672.6:c.*105G>A	ENSP00000443495.1:n.*105G>A
ENST00000651275.1:c.2682G>A	ENSP00000498926.1:n.2682G>A
ENST00000651781.1:c.1870G>A
ENST00000652096.1:c.*2195G>A	ENSP00000498896.1:n.*2195G>A
ENST00000366578.5:c.*105G>A	ENSP00000355537.4:n.*105G>A
ENST00000542672.5:c.*105G>A	ENSP00000443495.1:n.*105G>A
ENST00000546208.5:c.*105G>A	ENSP00000438384.2:n.*105G>A
NM_001103.3:c.*105G>A	NP_001094.1:n.*105G>A
NM_001278343.1:c.*105G>A	NP_001265272.1:n.*105G>A
NM_001278344.1:c.*105G>A	NP_001265273.1:n.*105G>A
NM_001278343.2:c.*105G>A	NP_001265272.1:n.*105G>A
NM_001103.4:c.*105G>A MANE Select	NP_001094.1:n.*105G>A
NM_001278344.2:c.*105G>A	NP_001265273.1:n.*105G>A