Canonical Allele Identifier: CA2651182873

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762706-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762706A>T , CM000663.2:g.236762706A>T	GRCh38
NC_000001.10:g.236926006A>T , CM000663.1:g.236926006A>T	GRCh37
NC_000001.9:g.234992629A>T	NCBI36
NG_009081.1:g.81237A>T
NG_009081.2:g.103566A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*87A>T	ENSP00000443495.1:n.*87A>T
ENST00000461367.2:n.1068A>T
ENST00000492634.7:n.2702A>T
ENST00000682015.1:c.*87A>T	ENSP00000506961.1:n.*87A>T
ENST00000682490.1:n.690A>T
ENST00000682692.1:n.3867A>T
ENST00000682966.1:n.8413A>T
ENST00000683111.1:c.*2058A>T	ENSP00000507913.1:n.*2058A>T
ENST00000683322.1:n.4124A>T
ENST00000683805.1:n.1563A>T
ENST00000684050.1:n.5410A>T
ENST00000684122.1:n.2206A>T
ENST00000684286.1:n.4327A>T
ENST00000684502.1:n.4069A>T
ENST00000684763.1:n.1387A>T
ENST00000366578.6:c.*87A>T MANE Select	ENSP00000355537.4:n.*87A>T
ENST00000492634.6:n.2702A>T
ENST00000542672.6:c.*87A>T	ENSP00000443495.1:n.*87A>T
ENST00000651275.1:c.2664A>T	ENSP00000498926.1:n.2664A>T
ENST00000651781.1:c.1852A>T
ENST00000651786.1:c.*2144A>T	ENSP00000498364.1:n.*2144A>T
ENST00000652096.1:c.*2177A>T	ENSP00000498896.1:n.*2177A>T
ENST00000366578.5:c.*87A>T	ENSP00000355537.4:n.*87A>T
ENST00000542672.5:c.*87A>T	ENSP00000443495.1:n.*87A>T
ENST00000546208.5:c.*87A>T	ENSP00000438384.2:n.*87A>T
NM_001103.3:c.*87A>T	NP_001094.1:n.*87A>T
NM_001278343.1:c.*87A>T	NP_001265272.1:n.*87A>T
NM_001278344.1:c.*87A>T	NP_001265273.1:n.*87A>T
NM_001278343.2:c.*87A>T	NP_001265272.1:n.*87A>T
NM_001103.4:c.*87A>T MANE Select	NP_001094.1:n.*87A>T
NM_001278344.2:c.*87A>T	NP_001265273.1:n.*87A>T