Canonical Allele Identifier: CA345387608

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 487588
• ClinVar RCV Id: RCV000656150
• dbSNP Id: rs1553304459
• MyVariant Identifiers: chr1:g.236918419T>A (hg19) ; chr1:g.236755119T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755119T>A , CM000663.2:g.236755119T>A	GRCh38
NC_000001.10:g.236918419T>A , CM000663.1:g.236918419T>A	GRCh37
NC_000001.9:g.234985042T>A	NCBI36
NG_009081.1:g.73650T>A
NG_009081.2:g.95979T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2075T>A	ENSP00000443495.1:p.Ile692Asn
ENST00000461367.2:n.371T>A
ENST00000492634.7:n.2005T>A
ENST00000682015.1:c.1982T>A	ENSP00000506961.1:p.Ile661Asn
ENST00000682692.1:n.3170T>A
ENST00000682966.1:n.7716T>A
ENST00000683111.1:c.*1361T>A	ENSP00000507913.1:n.*1361T>A
ENST00000683322.1:n.3427T>A
ENST00000683805.1:n.866T>A
ENST00000684050.1:n.4713T>A
ENST00000684122.1:n.222T>A
ENST00000684286.1:n.3630T>A
ENST00000684502.1:n.3372T>A
ENST00000684763.1:n.690T>A
ENST00000366578.6:c.2075T>A MANE Select	ENSP00000355537.4:p.Ile692Asn
ENST00000492634.6:n.2005T>A
ENST00000542672.6:c.2075T>A	ENSP00000443495.1:p.Ile692Asn
ENST00000651091.1:c.1765T>A	ENSP00000498677.1:n.1765T>A
ENST00000651275.1:c.1967T>A	ENSP00000498926.1:p.Ile656Asn
ENST00000651781.1:c.1155T>A
ENST00000651786.1:c.*1447T>A	ENSP00000498364.1:n.*1447T>A
ENST00000652096.1:c.*1480T>A	ENSP00000498896.1:n.*1480T>A
ENST00000366578.5:c.2075T>A	ENSP00000355537.4:p.Ile692Asn
ENST00000461367.1:n.284T>A
ENST00000542672.5:c.2075T>A	ENSP00000443495.1:p.Ile692Asn
ENST00000546208.5:c.1451T>A	ENSP00000438384.2:p.Ile484Asn
NM_001103.3:c.2075T>A	NP_001094.1:p.Ile692Asn
NM_001278343.1:c.2075T>A	NP_001265272.1:p.Ile692Asn
NM_001278344.1:c.1451T>A	NP_001265273.1:p.Ile484Asn
NM_001278343.2:c.2075T>A	NP_001265272.1:p.Ile692Asn
NM_001103.4:c.2075T>A MANE Select	NP_001094.1:p.Ile692Asn
NM_001278344.2:c.1451T>A	NP_001265273.1:p.Ile484Asn