Canonical Allele Identifier: CA2698312153

Gene: ACTN2

Linked Data

• dbSNP Id: rs2102894896

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718974del , CM000663.2:g.236718974del	GRCh38
NC_000001.10:g.236882274del , CM000663.1:g.236882274del	GRCh37
NC_000001.9:g.234948897del	NCBI36
NG_009081.1:g.37505del
NG_009081.2:g.59834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.322del	ENSP00000443495.1:p.Ala108ProfsTer5
ENST00000492634.7:n.417del
ENST00000494762.2:n.71del
ENST00000682015.1:c.322del	ENSP00000506961.1:p.Ala108ProfsTer5
ENST00000682692.1:n.322del
ENST00000682966.1:n.321del
ENST00000683075.1:n.261del
ENST00000683111.1:c.265del	ENSP00000507913.1:p.Ala89ProfsTer5
ENST00000684050.1:n.357del
ENST00000684286.1:n.390del
ENST00000684502.1:n.357del
ENST00000366578.6:c.322del MANE Select	ENSP00000355537.4:p.Ala108ProfsTer5
ENST00000492634.6:n.417del
ENST00000542672.6:c.322del	ENSP00000443495.1:p.Ala108ProfsTer5
ENST00000651091.1:c.265del	ENSP00000498677.1:p.Ala89ProfsTer5
ENST00000651187.1:c.106del	ENSP00000498348.1:p.Ala36ProfsTer5
ENST00000651275.1:c.307del	ENSP00000498926.1:p.Ala103ProfsTer5
ENST00000651786.1:c.322del	ENSP00000498364.1:p.Ala108ProfsTer5
ENST00000652096.1:c.322del	ENSP00000498896.1:p.Ala108ProfsTer5
ENST00000366578.5:c.322del	ENSP00000355537.4:p.Ala108ProfsTer5
ENST00000492634.5:n.469del
ENST00000542672.5:c.322del	ENSP00000443495.1:p.Ala108ProfsTer5
ENST00000546208.5:c.-500del	ENSP00000438384.2:n.-500del
NM_001103.3:c.322del	NP_001094.1:p.Ala108ProfsTer5
NM_001278343.1:c.322del	NP_001265272.1:p.Ala108ProfsTer5
NM_001278344.1:c.-500del	NP_001265273.1:n.-500del
NM_001278343.2:c.322del	NP_001265272.1:p.Ala108ProfsTer5
NM_001103.4:c.322del MANE Select	NP_001094.1:p.Ala108ProfsTer5
NM_001278344.2:c.-500del	NP_001265273.1:n.-500del