Canonical Allele Identifier: CA2651182877

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762713-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762713T>A , CM000663.2:g.236762713T>A	GRCh38
NC_000001.10:g.236926013T>A , CM000663.1:g.236926013T>A	GRCh37
NC_000001.9:g.234992636T>A	NCBI36
NG_009081.1:g.81244T>A
NG_009081.2:g.103573T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*94T>A	ENSP00000443495.1:n.*94T>A
ENST00000461367.2:n.1075T>A
ENST00000492634.7:n.2709T>A
ENST00000682015.1:c.*94T>A	ENSP00000506961.1:n.*94T>A
ENST00000682490.1:n.697T>A
ENST00000682692.1:n.3874T>A
ENST00000682966.1:n.8420T>A
ENST00000683111.1:c.*2065T>A	ENSP00000507913.1:n.*2065T>A
ENST00000683322.1:n.4131T>A
ENST00000683805.1:n.1570T>A
ENST00000684050.1:n.5417T>A
ENST00000684122.1:n.2213T>A
ENST00000684286.1:n.4334T>A
ENST00000684502.1:n.4076T>A
ENST00000684763.1:n.1394T>A
ENST00000366578.6:c.*94T>A MANE Select	ENSP00000355537.4:n.*94T>A
ENST00000492634.6:n.2709T>A
ENST00000542672.6:c.*94T>A	ENSP00000443495.1:n.*94T>A
ENST00000651275.1:c.2671T>A	ENSP00000498926.1:n.2671T>A
ENST00000651781.1:c.1859T>A
ENST00000651786.1:c.*2151T>A	ENSP00000498364.1:n.*2151T>A
ENST00000652096.1:c.*2184T>A	ENSP00000498896.1:n.*2184T>A
ENST00000366578.5:c.*94T>A	ENSP00000355537.4:n.*94T>A
ENST00000542672.5:c.*94T>A	ENSP00000443495.1:n.*94T>A
ENST00000546208.5:c.*94T>A	ENSP00000438384.2:n.*94T>A
NM_001103.3:c.*94T>A	NP_001094.1:n.*94T>A
NM_001278343.1:c.*94T>A	NP_001265272.1:n.*94T>A
NM_001278344.1:c.*94T>A	NP_001265273.1:n.*94T>A
NM_001278343.2:c.*94T>A	NP_001265272.1:n.*94T>A
NM_001103.4:c.*94T>A MANE Select	NP_001094.1:n.*94T>A
NM_001278344.2:c.*94T>A	NP_001265273.1:n.*94T>A