Canonical Allele Identifier: CA39740713

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1097284
• ClinVar RCV Id: RCV002413997 ; RCV001418785
• dbSNP Id: rs958797222
• gnomAD v2: 1-236917345-C-T
• gnomAD v3: 1-236754045-C-T
• gnomAD v4: 1-236754045-C-T
• MyVariant Identifiers: chr1:g.236917345C>T (hg19) ; chr1:g.236754045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754045C>T , CM000663.2:g.236754045C>T	GRCh38
NC_000001.10:g.236917345C>T , CM000663.1:g.236917345C>T	GRCh37
NC_000001.9:g.234983968C>T	NCBI36
NG_009081.1:g.72576C>T
NG_009081.2:g.94905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1938C>T	ENSP00000443495.1:p.Ala646=
ENST00000461367.2:n.234C>T
ENST00000492634.7:n.1868C>T
ENST00000682015.1:c.1845C>T	ENSP00000506961.1:p.Ala615=
ENST00000682692.1:n.3033C>T
ENST00000682966.1:n.7579C>T
ENST00000683111.1:c.*1224C>T	ENSP00000507913.1:n.*1224C>T
ENST00000683322.1:n.3290C>T
ENST00000684050.1:n.4576C>T
ENST00000684286.1:n.3493C>T
ENST00000684502.1:n.3235C>T
ENST00000684763.1:n.553C>T
ENST00000366578.6:c.1938C>T MANE Select	ENSP00000355537.4:p.Ala646=
ENST00000492634.6:n.1868C>T
ENST00000542672.6:c.1938C>T	ENSP00000443495.1:p.Ala646=
ENST00000651091.1:c.1628C>T	ENSP00000498677.1:n.1628C>T
ENST00000651275.1:c.1830C>T	ENSP00000498926.1:p.Ala610=
ENST00000651781.1:c.1018C>T
ENST00000651786.1:c.*1310C>T	ENSP00000498364.1:n.*1310C>T
ENST00000652096.1:c.*1343C>T	ENSP00000498896.1:n.*1343C>T
ENST00000366578.5:c.1938C>T	ENSP00000355537.4:p.Ala646=
ENST00000461367.1:n.147C>T
ENST00000542672.5:c.1938C>T	ENSP00000443495.1:p.Ala646=
ENST00000546208.5:c.1314C>T	ENSP00000438384.2:p.Ala438=
NM_001103.3:c.1938C>T	NP_001094.1:p.Ala646=
NM_001278343.1:c.1938C>T	NP_001265272.1:p.Ala646=
NM_001278344.1:c.1314C>T	NP_001265273.1:p.Ala438=
NM_001278343.2:c.1938C>T	NP_001265272.1:p.Ala646=
NM_001103.4:c.1938C>T MANE Select	NP_001094.1:p.Ala646=
NM_001278344.2:c.1314C>T	NP_001265273.1:p.Ala438=