Canonical Allele Identifier: CA1013665164

Gene: ACTN2

Linked Data

• dbSNP Id: rs1659748333
• gnomAD v3: 1-236762722-G-A
• gnomAD v4: 1-236762722-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762722G>A , CM000663.2:g.236762722G>A	GRCh38
NC_000001.10:g.236926022G>A , CM000663.1:g.236926022G>A	GRCh37
NC_000001.9:g.234992645G>A	NCBI36
NG_009081.1:g.81253G>A
NG_009081.2:g.103582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*103G>A	ENSP00000443495.1:n.*103G>A
ENST00000461367.2:n.1084G>A
ENST00000492634.7:n.2718G>A
ENST00000682015.1:c.*103G>A	ENSP00000506961.1:n.*103G>A
ENST00000682490.1:n.706G>A
ENST00000682692.1:n.3883G>A
ENST00000682966.1:n.8429G>A
ENST00000683111.1:c.*2074G>A	ENSP00000507913.1:n.*2074G>A
ENST00000683322.1:n.4140G>A
ENST00000683805.1:n.1579G>A
ENST00000684050.1:n.5426G>A
ENST00000684122.1:n.2222G>A
ENST00000684286.1:n.4343G>A
ENST00000684502.1:n.4085G>A
ENST00000684763.1:n.1403G>A
ENST00000366578.6:c.*103G>A MANE Select	ENSP00000355537.4:n.*103G>A
ENST00000492634.6:n.2718G>A
ENST00000542672.6:c.*103G>A	ENSP00000443495.1:n.*103G>A
ENST00000651275.1:c.2680G>A	ENSP00000498926.1:n.2680G>A
ENST00000651781.1:c.1868G>A
ENST00000652096.1:c.*2193G>A	ENSP00000498896.1:n.*2193G>A
ENST00000366578.5:c.*103G>A	ENSP00000355537.4:n.*103G>A
ENST00000542672.5:c.*103G>A	ENSP00000443495.1:n.*103G>A
ENST00000546208.5:c.*103G>A	ENSP00000438384.2:n.*103G>A
NM_001103.3:c.*103G>A	NP_001094.1:n.*103G>A
NM_001278343.1:c.*103G>A	NP_001265272.1:n.*103G>A
NM_001278344.1:c.*103G>A	NP_001265273.1:n.*103G>A
NM_001278343.2:c.*103G>A	NP_001265272.1:n.*103G>A
NM_001103.4:c.*103G>A MANE Select	NP_001094.1:n.*103G>A
NM_001278344.2:c.*103G>A	NP_001265273.1:n.*103G>A