Canonical Allele Identifier: CA16603538

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 387854
• ClinVar RCV Id: RCV000436961
• dbSNP Id: rs534607483
• gnomAD v4: 1-236755100-A-C
• MyVariant Identifiers: chr1:g.236918400A>C (hg19) ; chr1:g.236755100A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755100A>C , CM000663.2:g.236755100A>C	GRCh38
NC_000001.10:g.236918400A>C , CM000663.1:g.236918400A>C	GRCh37
NC_000001.9:g.234985023A>C	NCBI36
NG_009081.1:g.73631A>C
NG_009081.2:g.95960A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2056A>C	ENSP00000443495.1:p.Ile686Leu
ENST00000461367.2:n.352A>C
ENST00000492634.7:n.1986A>C
ENST00000682015.1:c.1963A>C	ENSP00000506961.1:p.Ile655Leu
ENST00000682692.1:n.3151A>C
ENST00000682966.1:n.7697A>C
ENST00000683111.1:c.*1342A>C	ENSP00000507913.1:n.*1342A>C
ENST00000683322.1:n.3408A>C
ENST00000683805.1:n.847A>C
ENST00000684050.1:n.4694A>C
ENST00000684122.1:n.203A>C
ENST00000684286.1:n.3611A>C
ENST00000684502.1:n.3353A>C
ENST00000684763.1:n.671A>C
ENST00000366578.6:c.2056A>C MANE Select	ENSP00000355537.4:p.Ile686Leu
ENST00000492634.6:n.1986A>C
ENST00000542672.6:c.2056A>C	ENSP00000443495.1:p.Ile686Leu
ENST00000651091.1:c.1746A>C	ENSP00000498677.1:n.1746A>C
ENST00000651275.1:c.1948A>C	ENSP00000498926.1:p.Ile650Leu
ENST00000651781.1:c.1136A>C
ENST00000651786.1:c.*1428A>C	ENSP00000498364.1:n.*1428A>C
ENST00000652096.1:c.*1461A>C	ENSP00000498896.1:n.*1461A>C
ENST00000366578.5:c.2056A>C	ENSP00000355537.4:p.Ile686Leu
ENST00000461367.1:n.265A>C
ENST00000542672.5:c.2056A>C	ENSP00000443495.1:p.Ile686Leu
ENST00000546208.5:c.1432A>C	ENSP00000438384.2:p.Ile478Leu
NM_001103.3:c.2056A>C	NP_001094.1:p.Ile686Leu
NM_001278343.1:c.2056A>C	NP_001265272.1:p.Ile686Leu
NM_001278344.1:c.1432A>C	NP_001265273.1:p.Ile478Leu
NM_001278343.2:c.2056A>C	NP_001265272.1:p.Ile686Leu
NM_001103.4:c.2056A>C MANE Select	NP_001094.1:p.Ile686Leu
NM_001278344.2:c.1432A>C	NP_001265273.1:p.Ile478Leu