Canonical Allele Identifier: CA1473292

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1783562
• ClinVar RCV Id: RCV002423434 ; RCV003100972
• dbSNP Id: rs754150704
• ExAC: 1:236917376 A / T
• gnomAD v2: 1-236917376-A-T
• gnomAD v4: 1-236754076-A-T
• MyVariant Identifiers: chr1:g.236917376A>T (hg19) ; chr1:g.236754076A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754076A>T , CM000663.2:g.236754076A>T	GRCh38
NC_000001.10:g.236917376A>T , CM000663.1:g.236917376A>T	GRCh37
NC_000001.9:g.234983999A>T	NCBI36
NG_009081.1:g.72607A>T
NG_009081.2:g.94936A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1969A>T	ENSP00000443495.1:p.Met657Leu
ENST00000461367.2:n.265A>T
ENST00000492634.7:n.1899A>T
ENST00000682015.1:c.1876A>T	ENSP00000506961.1:p.Met626Leu
ENST00000682692.1:n.3064A>T
ENST00000682966.1:n.7610A>T
ENST00000683111.1:c.*1255A>T	ENSP00000507913.1:n.*1255A>T
ENST00000683322.1:n.3321A>T
ENST00000684050.1:n.4607A>T
ENST00000684286.1:n.3524A>T
ENST00000684502.1:n.3266A>T
ENST00000684763.1:n.584A>T
ENST00000366578.6:c.1969A>T MANE Select	ENSP00000355537.4:p.Met657Leu
ENST00000492634.6:n.1899A>T
ENST00000542672.6:c.1969A>T	ENSP00000443495.1:p.Met657Leu
ENST00000651091.1:c.1659A>T	ENSP00000498677.1:n.1659A>T
ENST00000651275.1:c.1861A>T	ENSP00000498926.1:p.Met621Leu
ENST00000651781.1:c.1049A>T
ENST00000651786.1:c.*1341A>T	ENSP00000498364.1:n.*1341A>T
ENST00000652096.1:c.*1374A>T	ENSP00000498896.1:n.*1374A>T
ENST00000366578.5:c.1969A>T	ENSP00000355537.4:p.Met657Leu
ENST00000461367.1:n.178A>T
ENST00000542672.5:c.1969A>T	ENSP00000443495.1:p.Met657Leu
ENST00000546208.5:c.1345A>T	ENSP00000438384.2:p.Met449Leu
NM_001103.3:c.1969A>T	NP_001094.1:p.Met657Leu
NM_001278343.1:c.1969A>T	NP_001265272.1:p.Met657Leu
NM_001278344.1:c.1345A>T	NP_001265273.1:p.Met449Leu
NM_001278343.2:c.1969A>T	NP_001265272.1:p.Met657Leu
NM_001103.4:c.1969A>T MANE Select	NP_001094.1:p.Met657Leu
NM_001278344.2:c.1345A>T	NP_001265273.1:p.Met449Leu