Canonical Allele Identifier: CA2580062355

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236735624_236735625delinsAA , CM000663.2:g.236735624_236735625delinsAA	GRCh38
NC_000001.10:g.236898924_236898925delinsAA , CM000663.1:g.236898924_236898925delinsAA	GRCh37
NC_000001.9:g.234965547_234965548delinsAA	NCBI36
NG_009081.1:g.54155_54156delinsAA
NG_009081.2:g.76484_76485delinsAA

Transcript Alleles

HGVS	Amino-acid Change
NM_001103.4:c.698-11_698-10delinsAA MANE Select	NP_001094.1:n.698-11_698-10delinsAA
ENST00000366578.6:c.698-11_698-10delinsAA MANE Select	ENSP00000355537.4:n.698-11_698-10delinsAA
NM_001103.3:c.698-11_698-10delinsAA	NP_001094.1:n.698-11_698-10delinsAA
NM_001278343.1:c.783+1106_783+1107delinsAA	NP_001265272.1:n.783+1106_783+1107delinsAA
NM_001278343.2:c.783+1106_783+1107delinsAA	NP_001265272.1:n.783+1106_783+1107delinsAA
NM_001278344.1:c.-38-11_-38-10delinsAA	NP_001265273.1:n.-38-11_-38-10delinsAA
NM_001278344.2:c.-38-11_-38-10delinsAA	NP_001265273.1:n.-38-11_-38-10delinsAA
ENST00000366578.5:c.698-11_698-10delinsAA	ENSP00000355537.4:n.698-11_698-10delinsAA
ENST00000492634.5:n.931-11_931-10delinsAA
ENST00000492634.6:n.714-1498_714-1497delinsAA
ENST00000492634.7:n.714-1498_714-1497delinsAA
ENST00000494762.2:n.368-11_368-10delinsAA
ENST00000542672.5:c.783+1106_783+1107delinsAA	ENSP00000443495.1:n.783+1106_783+1107delinsAA
ENST00000542672.6:c.783+1106_783+1107delinsAA	ENSP00000443495.1:n.783+1106_783+1107delinsAA
ENST00000542672.7:c.783+1106_783+1107delinsAA	ENSP00000443495.1:n.783+1106_783+1107delinsAA
ENST00000546208.5:c.-38-11_-38-10delinsAA	ENSP00000438384.2:n.-38-11_-38-10delinsAA
ENST00000651091.1:c.474-1498_474-1497delinsAA	ENSP00000498677.1:n.474-1498_474-1497delinsAA
ENST00000651275.1:c.768+1106_768+1107delinsAA	ENSP00000498926.1:n.768+1106_768+1107delinsAA
ENST00000651781.1:c.151+1106_151+1107delinsAA
ENST00000651786.1:c.*70-11_*70-10delinsAA	ENSP00000498364.1:n.*70-11_*70-10delinsAA
ENST00000652096.1:c.784-11_784-10delinsAA	ENSP00000498896.1:n.784-11_784-10delinsAA
ENST00000682015.1:c.698-11_698-10delinsAA	ENSP00000506961.1:n.698-11_698-10delinsAA
ENST00000682692.1:n.531-1498_531-1497delinsAA
ENST00000682966.1:n.4927_4928delinsAA
ENST00000683111.1:c.*70-1498_*70-1497delinsAA	ENSP00000507913.1:n.*70-1498_*70-1497delinsAA
ENST00000683322.1:n.2229-3678_2229-3677delinsAA
ENST00000684050.1:n.1924_1925delinsAA
ENST00000684286.1:n.852-11_852-10delinsAA
ENST00000684502.1:n.733-1498_733-1497delinsAA