Canonical Allele Identifier: CA2580060400

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718385_236727706del , CM000663.2:g.236718385_236727706del	GRCh38
NC_000001.10:g.236881685_236891006del , CM000663.1:g.236881685_236891006del	GRCh37
NC_000001.9:g.234948308_234957629del	NCBI36
NG_009081.2:g.59245_68566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.241+413_565del
ENST00000492634.7:n.336+413_631+1686del
ENST00000682015.1:c.241+413_565del
ENST00000682692.1:n.241+413_449-3527del
ENST00000682966.1:n.240+413_535+1686del
ENST00000683111.1:c.184+413_479+1686del
ENST00000684050.1:n.276+413_600del
ENST00000684286.1:n.309+413_633del
ENST00000684502.1:n.276+413_600del
ENST00000366578.6:c.241+413_565del
ENST00000492634.6:n.336+413_631+1686del
ENST00000542672.6:c.241+413_565del
ENST00000651091.1:c.184+413_392-3527del
ENST00000651275.1:c.226+413_550del
ENST00000651786.1:c.241+413_536+1686del
ENST00000652096.1:c.241+413_565del
ENST00000366578.5:c.241+413_565del
ENST00000492634.5:n.388+413_712del
ENST00000542672.5:c.241+413_565del
ENST00000546208.5:c.-581+413_-257del
NM_001278343.2:c.241+413_565del
NM_001103.4:c.241+413_565del
NM_001278344.2:c.-581+413_-257del