Canonical Allele Identifier: CA2698358384

Gene: ACTN2

Linked Data

• dbSNP Id: rs2102954087

Genomic Alleles

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

Transcript Alleles

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