Canonical Allele Identifier: CA345388673

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920804G>C (hg19) ; chr1:g.236757504G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757504G>C , CM000663.2:g.236757504G>C	GRCh38
NC_000001.10:g.236920804G>C , CM000663.1:g.236920804G>C	GRCh37
NC_000001.9:g.234987427G>C	NCBI36
NG_009081.1:g.76035G>C
NG_009081.2:g.98364G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2173G>C	ENSP00000443495.1:p.Glu725Gln
ENST00000461367.2:n.469G>C
ENST00000492634.7:n.2103G>C
ENST00000682015.1:c.2080G>C	ENSP00000506961.1:p.Glu694Gln
ENST00000682490.1:n.91G>C
ENST00000682692.1:n.3268G>C
ENST00000682966.1:n.7814G>C
ENST00000683111.1:c.*1459G>C	ENSP00000507913.1:n.*1459G>C
ENST00000683322.1:n.3525G>C
ENST00000683805.1:n.964G>C
ENST00000684050.1:n.4811G>C
ENST00000684122.1:n.320G>C
ENST00000684286.1:n.3728G>C
ENST00000684502.1:n.3470G>C
ENST00000684763.1:n.788G>C
ENST00000366578.6:c.2173G>C MANE Select	ENSP00000355537.4:p.Glu725Gln
ENST00000492634.6:n.2103G>C
ENST00000542672.6:c.2173G>C	ENSP00000443495.1:p.Glu725Gln
ENST00000651091.1:c.1863G>C	ENSP00000498677.1:n.1863G>C
ENST00000651275.1:c.2065G>C	ENSP00000498926.1:p.Glu689Gln
ENST00000651781.1:c.1253G>C
ENST00000651786.1:c.*1545G>C	ENSP00000498364.1:n.*1545G>C
ENST00000652096.1:c.*1578G>C	ENSP00000498896.1:n.*1578G>C
ENST00000366578.5:c.2173G>C	ENSP00000355537.4:p.Glu725Gln
ENST00000461367.1:n.382G>C
ENST00000542672.5:c.2173G>C	ENSP00000443495.1:p.Glu725Gln
ENST00000546208.5:c.1549G>C	ENSP00000438384.2:p.Glu517Gln
NM_001103.3:c.2173G>C	NP_001094.1:p.Glu725Gln
NM_001278343.1:c.2173G>C	NP_001265272.1:p.Glu725Gln
NM_001278344.1:c.1549G>C	NP_001265273.1:p.Glu517Gln
NM_001278343.2:c.2173G>C	NP_001265272.1:p.Glu725Gln
NM_001103.4:c.2173G>C MANE Select	NP_001094.1:p.Glu725Gln
NM_001278344.2:c.1549G>C	NP_001265273.1:p.Glu517Gln