Canonical Allele Identifier: CA2651182854

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762684-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762684C>A , CM000663.2:g.236762684C>A	GRCh38
NC_000001.10:g.236925984C>A , CM000663.1:g.236925984C>A	GRCh37
NC_000001.9:g.234992607C>A	NCBI36
NG_009081.1:g.81215C>A
NG_009081.2:g.103544C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*65C>A	ENSP00000443495.1:n.*65C>A
ENST00000461367.2:n.1046C>A
ENST00000492634.7:n.2680C>A
ENST00000682015.1:c.*65C>A	ENSP00000506961.1:n.*65C>A
ENST00000682490.1:n.668C>A
ENST00000682692.1:n.3845C>A
ENST00000682966.1:n.8391C>A
ENST00000683111.1:c.*2036C>A	ENSP00000507913.1:n.*2036C>A
ENST00000683322.1:n.4102C>A
ENST00000683805.1:n.1541C>A
ENST00000684050.1:n.5388C>A
ENST00000684122.1:n.2184C>A
ENST00000684286.1:n.4305C>A
ENST00000684502.1:n.4047C>A
ENST00000684763.1:n.1365C>A
ENST00000366578.6:c.*65C>A MANE Select	ENSP00000355537.4:n.*65C>A
ENST00000492634.6:n.2680C>A
ENST00000542672.6:c.*65C>A	ENSP00000443495.1:n.*65C>A
ENST00000651275.1:c.2642C>A	ENSP00000498926.1:n.2642C>A
ENST00000651781.1:c.1830C>A
ENST00000651786.1:c.*2122C>A	ENSP00000498364.1:n.*2122C>A
ENST00000652096.1:c.*2155C>A	ENSP00000498896.1:n.*2155C>A
ENST00000366578.5:c.*65C>A	ENSP00000355537.4:n.*65C>A
ENST00000542672.5:c.*65C>A	ENSP00000443495.1:n.*65C>A
ENST00000546208.5:c.*65C>A	ENSP00000438384.2:n.*65C>A
NM_001103.3:c.*65C>A	NP_001094.1:n.*65C>A
NM_001278343.1:c.*65C>A	NP_001265272.1:n.*65C>A
NM_001278344.1:c.*65C>A	NP_001265273.1:n.*65C>A
NM_001278343.2:c.*65C>A	NP_001265272.1:n.*65C>A
NM_001103.4:c.*65C>A MANE Select	NP_001094.1:n.*65C>A
NM_001278344.2:c.*65C>A	NP_001265273.1:n.*65C>A