Canonical Allele Identifier: CA1473113

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 384968
• ClinVar RCV Id: RCV001058529 ; RCV002379341 ; RCV002488926
• dbSNP Id: rs767291633
• ExAC: 1:236907965 C / T
• gnomAD v2: 1-236907965-C-T
• gnomAD v3: 1-236744665-C-T
• gnomAD v4: 1-236744665-C-T
• MyVariant Identifiers: chr1:g.236907965C>T (hg19) ; chr1:g.236744665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236744665C>T , CM000663.2:g.236744665C>T	GRCh38
NC_000001.10:g.236907965C>T , CM000663.1:g.236907965C>T	GRCh37
NC_000001.9:g.234974588C>T	NCBI36
NG_009081.1:g.63196C>T
NG_009081.2:g.85525C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.1295C>T	ENSP00000443495.1:p.Ala432Val
ENST00000492634.7:n.1225C>T
ENST00000682015.1:c.1202C>T	ENSP00000506961.1:p.Ala401Val
ENST00000682692.1:n.1042C>T
ENST00000682966.1:n.6936C>T
ENST00000683111.1:c.*581C>T	ENSP00000507913.1:n.*581C>T
ENST00000683322.1:n.2647C>T
ENST00000684050.1:n.3933C>T
ENST00000684286.1:n.2850C>T
ENST00000684502.1:n.1244C>T
ENST00000366578.6:c.1295C>T MANE Select	ENSP00000355537.4:p.Ala432Val
ENST00000492634.6:n.1225C>T
ENST00000542672.6:c.1295C>T	ENSP00000443495.1:p.Ala432Val
ENST00000651091.1:c.985C>T	ENSP00000498677.1:n.985C>T
ENST00000651275.1:c.1187C>T	ENSP00000498926.1:p.Ala396Val
ENST00000651781.1:c.375C>T
ENST00000651786.1:c.*667C>T	ENSP00000498364.1:n.*667C>T
ENST00000652096.1:c.*700C>T	ENSP00000498896.1:n.*700C>T
ENST00000366578.5:c.1295C>T	ENSP00000355537.4:p.Ala432Val
ENST00000492634.5:n.1528C>T
ENST00000542672.5:c.1295C>T	ENSP00000443495.1:p.Ala432Val
ENST00000546208.5:c.671C>T	ENSP00000438384.2:p.Ala224Val
NM_001103.3:c.1295C>T	NP_001094.1:p.Ala432Val
NM_001278343.1:c.1295C>T	NP_001265272.1:p.Ala432Val
NM_001278344.1:c.671C>T	NP_001265273.1:p.Ala224Val
NM_001278343.2:c.1295C>T	NP_001265272.1:p.Ala432Val
NM_001103.4:c.1295C>T MANE Select	NP_001094.1:p.Ala432Val
NM_001278344.2:c.671C>T	NP_001265273.1:p.Ala224Val