Canonical Allele Identifier: CA2651182868

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762698-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762698C>A , CM000663.2:g.236762698C>A	GRCh38
NC_000001.10:g.236925998C>A , CM000663.1:g.236925998C>A	GRCh37
NC_000001.9:g.234992621C>A	NCBI36
NG_009081.1:g.81229C>A
NG_009081.2:g.103558C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*79C>A	ENSP00000443495.1:n.*79C>A
ENST00000461367.2:n.1060C>A
ENST00000492634.7:n.2694C>A
ENST00000682015.1:c.*79C>A	ENSP00000506961.1:n.*79C>A
ENST00000682490.1:n.682C>A
ENST00000682692.1:n.3859C>A
ENST00000682966.1:n.8405C>A
ENST00000683111.1:c.*2050C>A	ENSP00000507913.1:n.*2050C>A
ENST00000683322.1:n.4116C>A
ENST00000683805.1:n.1555C>A
ENST00000684050.1:n.5402C>A
ENST00000684122.1:n.2198C>A
ENST00000684286.1:n.4319C>A
ENST00000684502.1:n.4061C>A
ENST00000684763.1:n.1379C>A
ENST00000366578.6:c.*79C>A MANE Select	ENSP00000355537.4:n.*79C>A
ENST00000492634.6:n.2694C>A
ENST00000542672.6:c.*79C>A	ENSP00000443495.1:n.*79C>A
ENST00000651275.1:c.2656C>A	ENSP00000498926.1:n.2656C>A
ENST00000651781.1:c.1844C>A
ENST00000651786.1:c.*2136C>A	ENSP00000498364.1:n.*2136C>A
ENST00000652096.1:c.*2169C>A	ENSP00000498896.1:n.*2169C>A
ENST00000366578.5:c.*79C>A	ENSP00000355537.4:n.*79C>A
ENST00000542672.5:c.*79C>A	ENSP00000443495.1:n.*79C>A
ENST00000546208.5:c.*79C>A	ENSP00000438384.2:n.*79C>A
NM_001103.3:c.*79C>A	NP_001094.1:n.*79C>A
NM_001278343.1:c.*79C>A	NP_001265272.1:n.*79C>A
NM_001278344.1:c.*79C>A	NP_001265273.1:n.*79C>A
NM_001278343.2:c.*79C>A	NP_001265272.1:n.*79C>A
NM_001103.4:c.*79C>A MANE Select	NP_001094.1:n.*79C>A
NM_001278344.2:c.*79C>A	NP_001265273.1:n.*79C>A