Canonical Allele Identifier: CA1473506

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 963586
• ClinVar RCV Id: RCV001237633 ; RCV002484298
• dbSNP Id: rs769564893
• ExAC: 1:236925882 C / T
• gnomAD v2: 1-236925882-C-T
• gnomAD v3: 1-236762582-C-T
• gnomAD v4: 1-236762582-C-T
• COSMIC: COSM6382998 ; COSM6382999
• MyVariant Identifiers: chr1:g.236925882C>T (hg19) ; chr1:g.236762582C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762582C>T , CM000663.2:g.236762582C>T	GRCh38
NC_000001.10:g.236925882C>T , CM000663.1:g.236925882C>T	GRCh37
NC_000001.9:g.234992505C>T	NCBI36
NG_009081.1:g.81113C>T
NG_009081.2:g.103442C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2648C>T	ENSP00000443495.1:p.Ala883Val
ENST00000461367.2:n.944C>T
ENST00000492634.7:n.2578C>T
ENST00000682015.1:c.2555C>T	ENSP00000506961.1:p.Ala852Val
ENST00000682490.1:n.566C>T
ENST00000682692.1:n.3743C>T
ENST00000682966.1:n.8289C>T
ENST00000683111.1:c.*1934C>T	ENSP00000507913.1:n.*1934C>T
ENST00000683322.1:n.4000C>T
ENST00000683805.1:n.1439C>T
ENST00000684050.1:n.5286C>T
ENST00000684122.1:n.2082C>T
ENST00000684286.1:n.4203C>T
ENST00000684502.1:n.3945C>T
ENST00000684763.1:n.1263C>T
ENST00000366578.6:c.2648C>T MANE Select	ENSP00000355537.4:p.Ala883Val
ENST00000492634.6:n.2578C>T
ENST00000542672.6:c.2648C>T	ENSP00000443495.1:p.Ala883Val
ENST00000651091.1:c.2338C>T	ENSP00000498677.1:n.2338C>T
ENST00000651275.1:c.2540C>T	ENSP00000498926.1:p.Ala847Val
ENST00000651781.1:c.1728C>T
ENST00000651786.1:c.*2020C>T	ENSP00000498364.1:n.*2020C>T
ENST00000652096.1:c.*2053C>T	ENSP00000498896.1:n.*2053C>T
ENST00000366578.5:c.2648C>T	ENSP00000355537.4:p.Ala883Val
ENST00000542672.5:c.2648C>T	ENSP00000443495.1:p.Ala883Val
ENST00000546208.5:c.2024C>T	ENSP00000438384.2:p.Ala675Val
NM_001103.3:c.2648C>T	NP_001094.1:p.Ala883Val
NM_001278343.1:c.2648C>T	NP_001265272.1:p.Ala883Val
NM_001278344.1:c.2024C>T	NP_001265273.1:p.Ala675Val
NM_001278343.2:c.2648C>T	NP_001265272.1:p.Ala883Val
NM_001103.4:c.2648C>T MANE Select	NP_001094.1:p.Ala883Val
NM_001278344.2:c.2024C>T	NP_001265273.1:p.Ala675Val