Canonical Allele Identifier: CA345392623

Gene: ACTN2

Linked Data

• dbSNP Id: rs1659743296
• gnomAD v4: 1-236762585-T-A
• MyVariant Identifiers: chr1:g.236925885T>A (hg19) ; chr1:g.236762585T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762585T>A , CM000663.2:g.236762585T>A	GRCh38
NC_000001.10:g.236925885T>A , CM000663.1:g.236925885T>A	GRCh37
NC_000001.9:g.234992508T>A	NCBI36
NG_009081.1:g.81116T>A
NG_009081.2:g.103445T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2651T>A	ENSP00000443495.1:p.Phe884Tyr
ENST00000461367.2:n.947T>A
ENST00000492634.7:n.2581T>A
ENST00000682015.1:c.2558T>A	ENSP00000506961.1:p.Phe853Tyr
ENST00000682490.1:n.569T>A
ENST00000682692.1:n.3746T>A
ENST00000682966.1:n.8292T>A
ENST00000683111.1:c.*1937T>A	ENSP00000507913.1:n.*1937T>A
ENST00000683322.1:n.4003T>A
ENST00000683805.1:n.1442T>A
ENST00000684050.1:n.5289T>A
ENST00000684122.1:n.2085T>A
ENST00000684286.1:n.4206T>A
ENST00000684502.1:n.3948T>A
ENST00000684763.1:n.1266T>A
ENST00000366578.6:c.2651T>A MANE Select	ENSP00000355537.4:p.Phe884Tyr
ENST00000492634.6:n.2581T>A
ENST00000542672.6:c.2651T>A	ENSP00000443495.1:p.Phe884Tyr
ENST00000651091.1:c.2341T>A	ENSP00000498677.1:n.2341T>A
ENST00000651275.1:c.2543T>A	ENSP00000498926.1:p.Phe848Tyr
ENST00000651781.1:c.1731T>A
ENST00000651786.1:c.*2023T>A	ENSP00000498364.1:n.*2023T>A
ENST00000652096.1:c.*2056T>A	ENSP00000498896.1:n.*2056T>A
ENST00000366578.5:c.2651T>A	ENSP00000355537.4:p.Phe884Tyr
ENST00000542672.5:c.2651T>A	ENSP00000443495.1:p.Phe884Tyr
ENST00000546208.5:c.2027T>A	ENSP00000438384.2:p.Phe676Tyr
NM_001103.3:c.2651T>A	NP_001094.1:p.Phe884Tyr
NM_001278343.1:c.2651T>A	NP_001265272.1:p.Phe884Tyr
NM_001278344.1:c.2027T>A	NP_001265273.1:p.Phe676Tyr
NM_001278343.2:c.2651T>A	NP_001265272.1:p.Phe884Tyr
NM_001103.4:c.2651T>A MANE Select	NP_001094.1:p.Phe884Tyr
NM_001278344.2:c.2027T>A	NP_001265273.1:p.Phe676Tyr