Canonical Allele Identifier: CA345384135

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 463194
• ClinVar RCV Id: RCV000531364
• dbSNP Id: rs200248944
• MyVariant Identifiers: chr1:g.236911044C>A (hg19) ; chr1:g.236747744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747744C>A , CM000663.2:g.236747744C>A	GRCh38
NC_000001.10:g.236911044C>A , CM000663.1:g.236911044C>A	GRCh37
NC_000001.9:g.234977667C>A	NCBI36
NG_009081.1:g.66275C>A
NG_009081.2:g.88604C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.1484C>A	ENSP00000443495.1:p.Thr495Lys
ENST00000492634.7:n.1414C>A
ENST00000682015.1:c.1391C>A	ENSP00000506961.1:p.Thr464Lys
ENST00000682692.1:n.1231C>A
ENST00000682966.1:n.7125C>A
ENST00000683111.1:c.*770C>A	ENSP00000507913.1:n.*770C>A
ENST00000683322.1:n.2836C>A
ENST00000684050.1:n.4122C>A
ENST00000684286.1:n.3039C>A
ENST00000684502.1:n.1433C>A
ENST00000366578.6:c.1484C>A MANE Select	ENSP00000355537.4:p.Thr495Lys
ENST00000492634.6:n.1414C>A
ENST00000542672.6:c.1484C>A	ENSP00000443495.1:p.Thr495Lys
ENST00000651091.1:c.1174C>A	ENSP00000498677.1:n.1174C>A
ENST00000651275.1:c.1376C>A	ENSP00000498926.1:p.Thr459Lys
ENST00000651781.1:c.564C>A
ENST00000651786.1:c.*856C>A	ENSP00000498364.1:n.*856C>A
ENST00000652096.1:c.*889C>A	ENSP00000498896.1:n.*889C>A
ENST00000366578.5:c.1484C>A	ENSP00000355537.4:p.Thr495Lys
ENST00000492101.1:n.45C>A
ENST00000542672.5:c.1484C>A	ENSP00000443495.1:p.Thr495Lys
ENST00000546208.5:c.860C>A	ENSP00000438384.2:p.Thr287Lys
NM_001103.3:c.1484C>A	NP_001094.1:p.Thr495Lys
NM_001278343.1:c.1484C>A	NP_001265272.1:p.Thr495Lys
NM_001278344.1:c.860C>A	NP_001265273.1:p.Thr287Lys
NM_001278343.2:c.1484C>A	NP_001265272.1:p.Thr495Lys
NM_001103.4:c.1484C>A MANE Select	NP_001094.1:p.Thr495Lys
NM_001278344.2:c.860C>A	NP_001265273.1:p.Thr287Lys