Canonical Allele Identifier: CA2487053259

Gene: ACTN2

Linked Data

• dbSNP Id: rs781054133
• gnomAD v4: 1-236762635-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762635A>T , CM000663.2:g.236762635A>T	GRCh38
NC_000001.10:g.236925935A>T , CM000663.1:g.236925935A>T	GRCh37
NC_000001.9:g.234992558A>T	NCBI36
NG_009081.1:g.81166A>T
NG_009081.2:g.103495A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*16A>T	ENSP00000443495.1:n.*16A>T
ENST00000461367.2:n.997A>T
ENST00000492634.7:n.2631A>T
ENST00000682015.1:c.*16A>T	ENSP00000506961.1:n.*16A>T
ENST00000682490.1:n.619A>T
ENST00000682692.1:n.3796A>T
ENST00000682966.1:n.8342A>T
ENST00000683111.1:c.*1987A>T	ENSP00000507913.1:n.*1987A>T
ENST00000683322.1:n.4053A>T
ENST00000683805.1:n.1492A>T
ENST00000684050.1:n.5339A>T
ENST00000684122.1:n.2135A>T
ENST00000684286.1:n.4256A>T
ENST00000684502.1:n.3998A>T
ENST00000684763.1:n.1316A>T
ENST00000366578.6:c.*16A>T MANE Select	ENSP00000355537.4:n.*16A>T
ENST00000492634.6:n.2631A>T
ENST00000542672.6:c.*16A>T	ENSP00000443495.1:n.*16A>T
ENST00000651275.1:c.2593A>T	ENSP00000498926.1:n.2593A>T
ENST00000651781.1:c.1781A>T
ENST00000651786.1:c.*2073A>T	ENSP00000498364.1:n.*2073A>T
ENST00000652096.1:c.*2106A>T	ENSP00000498896.1:n.*2106A>T
ENST00000366578.5:c.*16A>T	ENSP00000355537.4:n.*16A>T
ENST00000542672.5:c.*16A>T	ENSP00000443495.1:n.*16A>T
ENST00000546208.5:c.*16A>T	ENSP00000438384.2:n.*16A>T
NM_001103.3:c.*16A>T	NP_001094.1:n.*16A>T
NM_001278343.1:c.*16A>T	NP_001265272.1:n.*16A>T
NM_001278344.1:c.*16A>T	NP_001265273.1:n.*16A>T
NM_001278343.2:c.*16A>T	NP_001265272.1:n.*16A>T
NM_001103.4:c.*16A>T MANE Select	NP_001094.1:n.*16A>T
NM_001278344.2:c.*16A>T	NP_001265273.1:n.*16A>T