Canonical Allele Identifier: CA2651182842

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762649-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762649C>G , CM000663.2:g.236762649C>G	GRCh38
NC_000001.10:g.236925949C>G , CM000663.1:g.236925949C>G	GRCh37
NC_000001.9:g.234992572C>G	NCBI36
NG_009081.1:g.81180C>G
NG_009081.2:g.103509C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*30C>G	ENSP00000443495.1:n.*30C>G
ENST00000461367.2:n.1011C>G
ENST00000492634.7:n.2645C>G
ENST00000682015.1:c.*30C>G	ENSP00000506961.1:n.*30C>G
ENST00000682490.1:n.633C>G
ENST00000682692.1:n.3810C>G
ENST00000682966.1:n.8356C>G
ENST00000683111.1:c.*2001C>G	ENSP00000507913.1:n.*2001C>G
ENST00000683322.1:n.4067C>G
ENST00000683805.1:n.1506C>G
ENST00000684050.1:n.5353C>G
ENST00000684122.1:n.2149C>G
ENST00000684286.1:n.4270C>G
ENST00000684502.1:n.4012C>G
ENST00000684763.1:n.1330C>G
ENST00000366578.6:c.*30C>G MANE Select	ENSP00000355537.4:n.*30C>G
ENST00000492634.6:n.2645C>G
ENST00000542672.6:c.*30C>G	ENSP00000443495.1:n.*30C>G
ENST00000651275.1:c.2607C>G	ENSP00000498926.1:n.2607C>G
ENST00000651781.1:c.1795C>G
ENST00000651786.1:c.*2087C>G	ENSP00000498364.1:n.*2087C>G
ENST00000652096.1:c.*2120C>G	ENSP00000498896.1:n.*2120C>G
ENST00000366578.5:c.*30C>G	ENSP00000355537.4:n.*30C>G
ENST00000542672.5:c.*30C>G	ENSP00000443495.1:n.*30C>G
ENST00000546208.5:c.*30C>G	ENSP00000438384.2:n.*30C>G
NM_001103.3:c.*30C>G	NP_001094.1:n.*30C>G
NM_001278343.1:c.*30C>G	NP_001265272.1:n.*30C>G
NM_001278344.1:c.*30C>G	NP_001265273.1:n.*30C>G
NM_001278343.2:c.*30C>G	NP_001265272.1:n.*30C>G
NM_001103.4:c.*30C>G MANE Select	NP_001094.1:n.*30C>G
NM_001278344.2:c.*30C>G	NP_001265273.1:n.*30C>G