Canonical Allele Identifier: CA185834

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 180111
• ClinVar RCV Id: RCV000156915 ; RCV000226394 ; RCV002336340 ; RCV001170233 ; RCV004551351
• dbSNP Id: rs539250948
• ExAC: 1:236882306 C / T
• gnomAD v2: 1-236882306-C-T
• gnomAD v3: 1-236719006-C-T
• gnomAD v4: 1-236719006-C-T
• COSMIC: COSM533527 ; COSM5134724
• MyVariant Identifiers: chr1:g.236882306C>T (hg19) ; chr1:g.236719006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719006C>T , CM000663.2:g.236719006C>T	GRCh38
NC_000001.10:g.236882306C>T , CM000663.1:g.236882306C>T	GRCh37
NC_000001.9:g.234948929C>T	NCBI36
NG_009081.1:g.37537C>T
NG_009081.2:g.59866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.354C>T	ENSP00000443495.1:p.Gly118=
ENST00000492634.7:n.449C>T
ENST00000494762.2:n.103C>T
ENST00000682015.1:c.354C>T	ENSP00000506961.1:p.Gly118=
ENST00000682692.1:n.354C>T
ENST00000682966.1:n.353C>T
ENST00000683075.1:n.293C>T
ENST00000683111.1:c.297C>T	ENSP00000507913.1:p.Gly99=
ENST00000684050.1:n.389C>T
ENST00000684286.1:n.422C>T
ENST00000684502.1:n.389C>T
ENST00000366578.6:c.354C>T MANE Select	ENSP00000355537.4:p.Gly118=
ENST00000492634.6:n.449C>T
ENST00000542672.6:c.354C>T	ENSP00000443495.1:p.Gly118=
ENST00000651091.1:c.297C>T	ENSP00000498677.1:p.Gly99=
ENST00000651187.1:c.138C>T	ENSP00000498348.1:p.Gly46=
ENST00000651275.1:c.339C>T	ENSP00000498926.1:p.Gly113=
ENST00000651786.1:c.354C>T	ENSP00000498364.1:p.Gly118=
ENST00000652096.1:c.354C>T	ENSP00000498896.1:p.Gly118=
ENST00000366578.5:c.354C>T	ENSP00000355537.4:p.Gly118=
ENST00000492634.5:n.501C>T
ENST00000542672.5:c.354C>T	ENSP00000443495.1:p.Gly118=
ENST00000546208.5:c.-468C>T	ENSP00000438384.2:n.-468C>T
NM_001103.3:c.354C>T	NP_001094.1:p.Gly118=
NM_001278343.1:c.354C>T	NP_001265272.1:p.Gly118=
NM_001278344.1:c.-468C>T	NP_001265273.1:n.-468C>T
NM_001278343.2:c.354C>T	NP_001265272.1:p.Gly118=
NM_001103.4:c.354C>T MANE Select	NP_001094.1:p.Gly118=
NM_001278344.2:c.-468C>T	NP_001265273.1:n.-468C>T