Canonical Allele Identifier: CA345373597

Gene: ACTN2

Linked Data

• COSMIC: COSM1181733
• MyVariant Identifiers: chr1:g.236882263T>G (hg19) ; chr1:g.236718963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718963T>G , CM000663.2:g.236718963T>G	GRCh38
NC_000001.10:g.236882263T>G , CM000663.1:g.236882263T>G	GRCh37
NC_000001.9:g.234948886T>G	NCBI36
NG_009081.1:g.37494T>G
NG_009081.2:g.59823T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.311T>G	ENSP00000443495.1:p.Leu104Trp
ENST00000492634.7:n.406T>G
ENST00000494762.2:n.60T>G
ENST00000682015.1:c.311T>G	ENSP00000506961.1:p.Leu104Trp
ENST00000682692.1:n.311T>G
ENST00000682966.1:n.310T>G
ENST00000683075.1:n.250T>G
ENST00000683111.1:c.254T>G	ENSP00000507913.1:p.Leu85Trp
ENST00000684050.1:n.346T>G
ENST00000684286.1:n.379T>G
ENST00000684502.1:n.346T>G
ENST00000366578.6:c.311T>G MANE Select	ENSP00000355537.4:p.Leu104Trp
ENST00000492634.6:n.406T>G
ENST00000542672.6:c.311T>G	ENSP00000443495.1:p.Leu104Trp
ENST00000651091.1:c.254T>G	ENSP00000498677.1:p.Leu85Trp
ENST00000651187.1:c.95T>G	ENSP00000498348.1:p.Leu32Trp
ENST00000651275.1:c.296T>G	ENSP00000498926.1:p.Leu99Trp
ENST00000651786.1:c.311T>G	ENSP00000498364.1:p.Leu104Trp
ENST00000652096.1:c.311T>G	ENSP00000498896.1:p.Leu104Trp
ENST00000366578.5:c.311T>G	ENSP00000355537.4:p.Leu104Trp
ENST00000492634.5:n.458T>G
ENST00000542672.5:c.311T>G	ENSP00000443495.1:p.Leu104Trp
ENST00000546208.5:c.-511T>G	ENSP00000438384.2:n.-511T>G
NM_001103.3:c.311T>G	NP_001094.1:p.Leu104Trp
NM_001278343.1:c.311T>G	NP_001265272.1:p.Leu104Trp
NM_001278344.1:c.-511T>G	NP_001265273.1:n.-511T>G
NM_001278343.2:c.311T>G	NP_001265272.1:p.Leu104Trp
NM_001103.4:c.311T>G MANE Select	NP_001094.1:p.Leu104Trp
NM_001278344.2:c.-511T>G	NP_001265273.1:n.-511T>G