Canonical Allele Identifier: CA2487053283

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762713_236762717delinsTGAGA , CM000663.2:g.236762713_236762717delinsTGAGA	GRCh38
NC_000001.10:g.236926013_236926017delinsTGAGA , CM000663.1:g.236926013_236926017delinsTGAGA	GRCh37
NC_000001.9:g.234992636_234992640delinsTGAGA	NCBI36
NG_009081.1:g.81244_81248delinsTGAGA
NG_009081.2:g.103573_103577delinsTGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*94_*98delinsTGAGA	ENSP00000443495.1:n.*94_*98delinsTGAGA
ENST00000461367.2:n.1075_1079delinsTGAGA
ENST00000492634.7:n.2709_2713delinsTGAGA
ENST00000682015.1:c.*94_*98delinsTGAGA	ENSP00000506961.1:n.*94_*98delinsTGAGA
ENST00000682490.1:n.697_701delinsTGAGA
ENST00000682692.1:n.3874_3878delinsTGAGA
ENST00000682966.1:n.8420_8424delinsTGAGA
ENST00000683111.1:c.*2065_*2069delinsTGAGA	ENSP00000507913.1:n.*2065_*2069delinsTGAGA
ENST00000683322.1:n.4131_4135delinsTGAGA
ENST00000683805.1:n.1570_1574delinsTGAGA
ENST00000684050.1:n.5417_5421delinsTGAGA
ENST00000684122.1:n.2213_2217delinsTGAGA
ENST00000684286.1:n.4334_4338delinsTGAGA
ENST00000684502.1:n.4076_4080delinsTGAGA
ENST00000684763.1:n.1394_1398delinsTGAGA
ENST00000366578.6:c.*94_*98delinsTGAGA MANE Select	ENSP00000355537.4:n.*94_*98delinsTGAGA
ENST00000492634.6:n.2709_2713delinsTGAGA
ENST00000542672.6:c.*94_*98delinsTGAGA	ENSP00000443495.1:n.*94_*98delinsTGAGA
ENST00000651275.1:c.2671_2675delinsTGAGA	ENSP00000498926.1:n.2671_2675delinsTGAGA
ENST00000651781.1:c.1859_1863delinsTGAGA
ENST00000652096.1:c.*2184_*2188delinsTGAGA	ENSP00000498896.1:n.*2184_*2188delinsTGAGA
ENST00000366578.5:c.*94_*98delinsTGAGA	ENSP00000355537.4:n.*94_*98delinsTGAGA
ENST00000542672.5:c.*94_*98delinsTGAGA	ENSP00000443495.1:n.*94_*98delinsTGAGA
ENST00000546208.5:c.*94_*98delinsTGAGA	ENSP00000438384.2:n.*94_*98delinsTGAGA
NM_001103.3:c.*94_*98delinsTGAGA	NP_001094.1:n.*94_*98delinsTGAGA
NM_001278343.1:c.*94_*98delinsTGAGA	NP_001265272.1:n.*94_*98delinsTGAGA
NM_001278344.1:c.*94_*98delinsTGAGA	NP_001265273.1:n.*94_*98delinsTGAGA
NM_001278343.2:c.*94_*98delinsTGAGA	NP_001265272.1:n.*94_*98delinsTGAGA
NM_001103.4:c.*94_*98delinsTGAGA MANE Select	NP_001094.1:n.*94_*98delinsTGAGA
NM_001278344.2:c.*94_*98delinsTGAGA	NP_001265273.1:n.*94_*98delinsTGAGA