Canonical Allele Identifier: CA2651182890

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762723-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762723A>T , CM000663.2:g.236762723A>T	GRCh38
NC_000001.10:g.236926023A>T , CM000663.1:g.236926023A>T	GRCh37
NC_000001.9:g.234992646A>T	NCBI36
NG_009081.1:g.81254A>T
NG_009081.2:g.103583A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*104A>T	ENSP00000443495.1:n.*104A>T
ENST00000461367.2:n.1085A>T
ENST00000492634.7:n.2719A>T
ENST00000682015.1:c.*104A>T	ENSP00000506961.1:n.*104A>T
ENST00000682490.1:n.707A>T
ENST00000682692.1:n.3884A>T
ENST00000682966.1:n.8430A>T
ENST00000683111.1:c.*2075A>T	ENSP00000507913.1:n.*2075A>T
ENST00000683322.1:n.4141A>T
ENST00000683805.1:n.1580A>T
ENST00000684050.1:n.5427A>T
ENST00000684122.1:n.2223A>T
ENST00000684286.1:n.4344A>T
ENST00000684502.1:n.4086A>T
ENST00000684763.1:n.1404A>T
ENST00000366578.6:c.*104A>T MANE Select	ENSP00000355537.4:n.*104A>T
ENST00000492634.6:n.2719A>T
ENST00000542672.6:c.*104A>T	ENSP00000443495.1:n.*104A>T
ENST00000651275.1:c.2681A>T	ENSP00000498926.1:n.2681A>T
ENST00000651781.1:c.1869A>T
ENST00000652096.1:c.*2194A>T	ENSP00000498896.1:n.*2194A>T
ENST00000366578.5:c.*104A>T	ENSP00000355537.4:n.*104A>T
ENST00000542672.5:c.*104A>T	ENSP00000443495.1:n.*104A>T
ENST00000546208.5:c.*104A>T	ENSP00000438384.2:n.*104A>T
NM_001103.3:c.*104A>T	NP_001094.1:n.*104A>T
NM_001278343.1:c.*104A>T	NP_001265272.1:n.*104A>T
NM_001278344.1:c.*104A>T	NP_001265273.1:n.*104A>T
NM_001278343.2:c.*104A>T	NP_001265272.1:n.*104A>T
NM_001103.4:c.*104A>T MANE Select	NP_001094.1:n.*104A>T
NM_001278344.2:c.*104A>T	NP_001265273.1:n.*104A>T