Canonical Allele Identifier: CA2748253851

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755176_236755177insACCCCCAAACACACCCA , CM000663.2:g.236755176_236755177insACCCCCAAACACACCCA	GRCh38
NC_000001.10:g.236918476_236918477insACCCCCAAACACACCCA , CM000663.1:g.236918476_236918477insACCCCCAAACACACCCA	GRCh37
NC_000001.9:g.234985099_234985100insACCCCCAAACACACCCA	NCBI36
NG_009081.1:g.73707_73708insACCCCCAAACACACCCA
NG_009081.2:g.96036_96037insACCCCCAAACACACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2132_2133insACCCCCAAACACACCCA	ENSP00000443495.1:p.His712ProfsTer23
ENST00000461367.2:n.428_429insACCCCCAAACACACCCA
ENST00000492634.7:n.2062_2063insACCCCCAAACACACCCA
ENST00000682015.1:c.2039_2040insACCCCCAAACACACCCA	ENSP00000506961.1:p.His681ProfsTer23
ENST00000682692.1:n.3227_3228insACCCCCAAACACACCCA
ENST00000682966.1:n.7773_7774insACCCCCAAACACACCCA
ENST00000683111.1:c.*1418_*1419insACCCCCAAACACACCCA	ENSP00000507913.1:n.*1418_*1419insACCCCCAAACACACCCA
ENST00000683322.1:n.3484_3485insACCCCCAAACACACCCA
ENST00000683805.1:n.923_924insACCCCCAAACACACCCA
ENST00000684050.1:n.4770_4771insACCCCCAAACACACCCA
ENST00000684122.1:n.279_280insACCCCCAAACACACCCA
ENST00000684286.1:n.3687_3688insACCCCCAAACACACCCA
ENST00000684502.1:n.3429_3430insACCCCCAAACACACCCA
ENST00000684763.1:n.747_748insACCCCCAAACACACCCA
ENST00000366578.6:c.2132_2133insACCCCCAAACACACCCA MANE Select	ENSP00000355537.4:p.His712ProfsTer23
ENST00000492634.6:n.2062_2063insACCCCCAAACACACCCA
ENST00000542672.6:c.2132_2133insACCCCCAAACACACCCA	ENSP00000443495.1:p.His712ProfsTer23
ENST00000651091.1:c.1822_1823insACCCCCAAACACACCCA	ENSP00000498677.1:n.1822_1823insACCCCCAAACACACCCA
ENST00000651275.1:c.2024_2025insACCCCCAAACACACCCA	ENSP00000498926.1:p.His676ProfsTer23
ENST00000651781.1:c.1212_1213insACCCCCAAACACACCCA
ENST00000651786.1:c.*1504_*1505insACCCCCAAACACACCCA	ENSP00000498364.1:n.*1504_*1505insACCCCCAAACACACCCA
ENST00000652096.1:c.*1537_*1538insACCCCCAAACACACCCA	ENSP00000498896.1:n.*1537_*1538insACCCCCAAACACACCCA
ENST00000366578.5:c.2132_2133insACCCCCAAACACACCCA	ENSP00000355537.4:p.His712ProfsTer23
ENST00000461367.1:n.341_342insACCCCCAAACACACCCA
ENST00000542672.5:c.2132_2133insACCCCCAAACACACCCA	ENSP00000443495.1:p.His712ProfsTer23
ENST00000546208.5:c.1508_1509insACCCCCAAACACACCCA	ENSP00000438384.2:p.His504ProfsTer23
NM_001103.3:c.2132_2133insACCCCCAAACACACCCA	NP_001094.1:p.His712ProfsTer23
NM_001278343.1:c.2132_2133insACCCCCAAACACACCCA	NP_001265272.1:p.His712ProfsTer23
NM_001278344.1:c.1508_1509insACCCCCAAACACACCCA	NP_001265273.1:p.His504ProfsTer23
NM_001278343.2:c.2132_2133insACCCCCAAACACACCCA	NP_001265272.1:p.His712ProfsTer23
NM_001103.4:c.2132_2133insACCCCCAAACACACCCA MANE Select	NP_001094.1:p.His712ProfsTer23
NM_001278344.2:c.1508_1509insACCCCCAAACACACCCA	NP_001265273.1:p.His504ProfsTer23