Canonical Allele Identifier: CA2651182765

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762445-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762445G>A , CM000663.2:g.236762445G>A	GRCh38
NC_000001.10:g.236925745G>A , CM000663.1:g.236925745G>A	GRCh37
NC_000001.9:g.234992368G>A	NCBI36
NG_009081.1:g.80976G>A
NG_009081.2:g.103305G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2527-16G>A	ENSP00000443495.1:n.2527-16G>A
ENST00000461367.2:n.823-16G>A
ENST00000492634.7:n.2457-16G>A
ENST00000682015.1:c.2434-16G>A	ENSP00000506961.1:n.2434-16G>A
ENST00000682490.1:n.445-16G>A
ENST00000682692.1:n.3622-16G>A
ENST00000682966.1:n.8168-16G>A
ENST00000683111.1:c.*1813-16G>A	ENSP00000507913.1:n.*1813-16G>A
ENST00000683322.1:n.3879-16G>A
ENST00000683805.1:n.1318-16G>A
ENST00000684050.1:n.5165-16G>A
ENST00000684122.1:n.1945G>A
ENST00000684286.1:n.4082-16G>A
ENST00000684502.1:n.3824-16G>A
ENST00000684763.1:n.1142-16G>A
ENST00000366578.6:c.2527-16G>A MANE Select	ENSP00000355537.4:n.2527-16G>A
ENST00000492634.6:n.2457-16G>A
ENST00000542672.6:c.2527-16G>A	ENSP00000443495.1:n.2527-16G>A
ENST00000651091.1:c.2217-16G>A	ENSP00000498677.1:n.2217-16G>A
ENST00000651275.1:c.2419-16G>A	ENSP00000498926.1:n.2419-16G>A
ENST00000651781.1:c.1607-16G>A
ENST00000651786.1:c.*1899-16G>A	ENSP00000498364.1:n.*1899-16G>A
ENST00000652096.1:c.*1932-16G>A	ENSP00000498896.1:n.*1932-16G>A
ENST00000366578.5:c.2527-16G>A	ENSP00000355537.4:n.2527-16G>A
ENST00000461367.1:n.736-16G>A
ENST00000542672.5:c.2527-16G>A	ENSP00000443495.1:n.2527-16G>A
ENST00000546208.5:c.1903-16G>A	ENSP00000438384.2:n.1903-16G>A
NM_001103.3:c.2527-16G>A	NP_001094.1:n.2527-16G>A
NM_001278343.1:c.2527-16G>A	NP_001265272.1:n.2527-16G>A
NM_001278344.1:c.1903-16G>A	NP_001265273.1:n.1903-16G>A
NM_001278343.2:c.2527-16G>A	NP_001265272.1:n.2527-16G>A
NM_001103.4:c.2527-16G>A MANE Select	NP_001094.1:n.2527-16G>A
NM_001278344.2:c.1903-16G>A	NP_001265273.1:n.1903-16G>A