Canonical Allele Identifier: CA16617093

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 420341
• ClinVar RCV Id: RCV000478534
• dbSNP Id: rs1553305291
• MyVariant Identifiers: chr1:g.236925864dupG (hg19) ; chr1:g.236762564dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762564dup , CM000663.2:g.236762564dup	GRCh38
NC_000001.10:g.236925864dup , CM000663.1:g.236925864dup	GRCh37
NC_000001.9:g.234992487dup	NCBI36
NG_009081.1:g.81095dup
NG_009081.2:g.103424dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2630dup	ENSP00000443495.1:p.Ala878CysfsTer?
ENST00000461367.2:n.926dup
ENST00000492634.7:n.2560dup
ENST00000682015.1:c.2537dup	ENSP00000506961.1:p.Ala847CysfsTer?
ENST00000682490.1:n.548dup
ENST00000682692.1:n.3725dup
ENST00000682966.1:n.8271dup
ENST00000683111.1:c.*1916dup	ENSP00000507913.1:n.*1916dup
ENST00000683322.1:n.3982dup
ENST00000683805.1:n.1421dup
ENST00000684050.1:n.5268dup
ENST00000684122.1:n.2064dup
ENST00000684286.1:n.4185dup
ENST00000684502.1:n.3927dup
ENST00000684763.1:n.1245dup
ENST00000366578.6:c.2630dup MANE Select	ENSP00000355537.4:p.Ala878CysfsTer?
ENST00000492634.6:n.2560dup
ENST00000542672.6:c.2630dup	ENSP00000443495.1:p.Ala878CysfsTer?
ENST00000651091.1:c.2320dup	ENSP00000498677.1:n.2320dup
ENST00000651275.1:c.2522dup	ENSP00000498926.1:p.Ala842CysfsTer?
ENST00000651781.1:c.1710dup
ENST00000651786.1:c.*2002dup	ENSP00000498364.1:n.*2002dup
ENST00000652096.1:c.*2035dup	ENSP00000498896.1:n.*2035dup
ENST00000366578.5:c.2630dup	ENSP00000355537.4:p.Ala878CysfsTer?
ENST00000461367.1:n.839dup
ENST00000542672.5:c.2630dup	ENSP00000443495.1:p.Ala878CysfsTer?
ENST00000546208.5:c.2006dup	ENSP00000438384.2:p.Ala670CysfsTer?
NM_001103.3:c.2630dup	NP_001094.1:p.Ala878CysfsTer?
NM_001278343.1:c.2630dup	NP_001265272.1:p.Ala878CysfsTer?
NM_001278344.1:c.2006dup	NP_001265273.1:p.Ala670CysfsTer?
NM_001278343.2:c.2630dup	NP_001265272.1:p.Ala878CysfsTer?
NM_001103.4:c.2630dup MANE Select	NP_001094.1:p.Ala878CysfsTer?
NM_001278344.2:c.2006dup	NP_001265273.1:p.Ala670CysfsTer?