Canonical Allele Identifier: CA345384062

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1704799
• ClinVar RCV Id: RCV002283126
• MyVariant Identifiers: chr1:g.236911030G>C (hg19) ; chr1:g.236747730G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747730G>C , CM000663.2:g.236747730G>C	GRCh38
NC_000001.10:g.236911030G>C , CM000663.1:g.236911030G>C	GRCh37
NC_000001.9:g.234977653G>C	NCBI36
NG_009081.1:g.66261G>C
NG_009081.2:g.88590G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1470G>C	ENSP00000443495.1:p.Trp490Cys
ENST00000492634.7:n.1400G>C
ENST00000682015.1:c.1377G>C	ENSP00000506961.1:p.Trp459Cys
ENST00000682692.1:n.1217G>C
ENST00000682966.1:n.7111G>C
ENST00000683111.1:c.*756G>C	ENSP00000507913.1:n.*756G>C
ENST00000683322.1:n.2822G>C
ENST00000684050.1:n.4108G>C
ENST00000684286.1:n.3025G>C
ENST00000684502.1:n.1419G>C
ENST00000366578.6:c.1470G>C MANE Select	ENSP00000355537.4:p.Trp490Cys
ENST00000492634.6:n.1400G>C
ENST00000542672.6:c.1470G>C	ENSP00000443495.1:p.Trp490Cys
ENST00000651091.1:c.1160G>C	ENSP00000498677.1:n.1160G>C
ENST00000651275.1:c.1362G>C	ENSP00000498926.1:p.Trp454Cys
ENST00000651781.1:c.550G>C
ENST00000651786.1:c.*842G>C	ENSP00000498364.1:n.*842G>C
ENST00000652096.1:c.*875G>C	ENSP00000498896.1:n.*875G>C
ENST00000366578.5:c.1470G>C	ENSP00000355537.4:p.Trp490Cys
ENST00000492101.1:n.31G>C
ENST00000542672.5:c.1470G>C	ENSP00000443495.1:p.Trp490Cys
ENST00000546208.5:c.846G>C	ENSP00000438384.2:p.Trp282Cys
NM_001103.3:c.1470G>C	NP_001094.1:p.Trp490Cys
NM_001278343.1:c.1470G>C	NP_001265272.1:p.Trp490Cys
NM_001278344.1:c.846G>C	NP_001265273.1:p.Trp282Cys
NM_001278343.2:c.1470G>C	NP_001265272.1:p.Trp490Cys
NM_001103.4:c.1470G>C MANE Select	NP_001094.1:p.Trp490Cys
NM_001278344.2:c.846G>C	NP_001265273.1:p.Trp282Cys