Canonical Allele Identifier: CA345387561

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1677369
• ClinVar RCV Id: RCV002223403
• dbSNP Id: rs1057523250
• gnomAD v4: 1-236755098-T-A
• MyVariant Identifiers: chr1:g.236918398T>A (hg19) ; chr1:g.236755098T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755098T>A , CM000663.2:g.236755098T>A	GRCh38
NC_000001.10:g.236918398T>A , CM000663.1:g.236918398T>A	GRCh37
NC_000001.9:g.234985021T>A	NCBI36
NG_009081.1:g.73629T>A
NG_009081.2:g.95958T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2054T>A	ENSP00000443495.1:p.Ile685Asn
ENST00000461367.2:n.350T>A
ENST00000492634.7:n.1984T>A
ENST00000682015.1:c.1961T>A	ENSP00000506961.1:p.Ile654Asn
ENST00000682692.1:n.3149T>A
ENST00000682966.1:n.7695T>A
ENST00000683111.1:c.*1340T>A	ENSP00000507913.1:n.*1340T>A
ENST00000683322.1:n.3406T>A
ENST00000683805.1:n.845T>A
ENST00000684050.1:n.4692T>A
ENST00000684122.1:n.201T>A
ENST00000684286.1:n.3609T>A
ENST00000684502.1:n.3351T>A
ENST00000684763.1:n.669T>A
ENST00000366578.6:c.2054T>A MANE Select	ENSP00000355537.4:p.Ile685Asn
ENST00000492634.6:n.1984T>A
ENST00000542672.6:c.2054T>A	ENSP00000443495.1:p.Ile685Asn
ENST00000651091.1:c.1744T>A	ENSP00000498677.1:n.1744T>A
ENST00000651275.1:c.1946T>A	ENSP00000498926.1:p.Ile649Asn
ENST00000651781.1:c.1134T>A
ENST00000651786.1:c.*1426T>A	ENSP00000498364.1:n.*1426T>A
ENST00000652096.1:c.*1459T>A	ENSP00000498896.1:n.*1459T>A
ENST00000366578.5:c.2054T>A	ENSP00000355537.4:p.Ile685Asn
ENST00000461367.1:n.263T>A
ENST00000542672.5:c.2054T>A	ENSP00000443495.1:p.Ile685Asn
ENST00000546208.5:c.1430T>A	ENSP00000438384.2:p.Ile477Asn
NM_001103.3:c.2054T>A	NP_001094.1:p.Ile685Asn
NM_001278343.1:c.2054T>A	NP_001265272.1:p.Ile685Asn
NM_001278344.1:c.1430T>A	NP_001265273.1:p.Ile477Asn
NM_001278343.2:c.2054T>A	NP_001265272.1:p.Ile685Asn
NM_001103.4:c.2054T>A MANE Select	NP_001094.1:p.Ile685Asn
NM_001278344.2:c.1430T>A	NP_001265273.1:p.Ile477Asn