Canonical Allele Identifier: CA345392717

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925912A>C (hg19) ; chr1:g.236762612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762612A>C , CM000663.2:g.236762612A>C	GRCh38
NC_000001.10:g.236925912A>C , CM000663.1:g.236925912A>C	GRCh37
NC_000001.9:g.234992535A>C	NCBI36
NG_009081.1:g.81143A>C
NG_009081.2:g.103472A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2678A>C	ENSP00000443495.1:p.Asp893Ala
ENST00000461367.2:n.974A>C
ENST00000492634.7:n.2608A>C
ENST00000682015.1:c.2585A>C	ENSP00000506961.1:p.Asp862Ala
ENST00000682490.1:n.596A>C
ENST00000682692.1:n.3773A>C
ENST00000682966.1:n.8319A>C
ENST00000683111.1:c.*1964A>C	ENSP00000507913.1:n.*1964A>C
ENST00000683322.1:n.4030A>C
ENST00000683805.1:n.1469A>C
ENST00000684050.1:n.5316A>C
ENST00000684122.1:n.2112A>C
ENST00000684286.1:n.4233A>C
ENST00000684502.1:n.3975A>C
ENST00000684763.1:n.1293A>C
ENST00000366578.6:c.2678A>C MANE Select	ENSP00000355537.4:p.Asp893Ala
ENST00000492634.6:n.2608A>C
ENST00000542672.6:c.2678A>C	ENSP00000443495.1:p.Asp893Ala
ENST00000651275.1:c.2570A>C	ENSP00000498926.1:p.Asp857Ala
ENST00000651781.1:c.1758A>C
ENST00000651786.1:c.*2050A>C	ENSP00000498364.1:n.*2050A>C
ENST00000652096.1:c.*2083A>C	ENSP00000498896.1:n.*2083A>C
ENST00000366578.5:c.2678A>C	ENSP00000355537.4:p.Asp893Ala
ENST00000542672.5:c.2678A>C	ENSP00000443495.1:p.Asp893Ala
ENST00000546208.5:c.2054A>C	ENSP00000438384.2:p.Asp685Ala
NM_001103.3:c.2678A>C	NP_001094.1:p.Asp893Ala
NM_001278343.1:c.2678A>C	NP_001265272.1:p.Asp893Ala
NM_001278344.1:c.2054A>C	NP_001265273.1:p.Asp685Ala
NM_001278343.2:c.2678A>C	NP_001265272.1:p.Asp893Ala
NM_001103.4:c.2678A>C MANE Select	NP_001094.1:p.Asp893Ala
NM_001278344.2:c.2054A>C	NP_001265273.1:p.Asp685Ala