Canonical Allele Identifier: CA345387067

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917364A>C (hg19) ; chr1:g.236754064A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754064A>C , CM000663.2:g.236754064A>C	GRCh38
NC_000001.10:g.236917364A>C , CM000663.1:g.236917364A>C	GRCh37
NC_000001.9:g.234983987A>C	NCBI36
NG_009081.1:g.72595A>C
NG_009081.2:g.94924A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1957A>C	ENSP00000443495.1:p.Ile653Leu
ENST00000461367.2:n.253A>C
ENST00000492634.7:n.1887A>C
ENST00000682015.1:c.1864A>C	ENSP00000506961.1:p.Ile622Leu
ENST00000682692.1:n.3052A>C
ENST00000682966.1:n.7598A>C
ENST00000683111.1:c.*1243A>C	ENSP00000507913.1:n.*1243A>C
ENST00000683322.1:n.3309A>C
ENST00000684050.1:n.4595A>C
ENST00000684286.1:n.3512A>C
ENST00000684502.1:n.3254A>C
ENST00000684763.1:n.572A>C
ENST00000366578.6:c.1957A>C MANE Select	ENSP00000355537.4:p.Ile653Leu
ENST00000492634.6:n.1887A>C
ENST00000542672.6:c.1957A>C	ENSP00000443495.1:p.Ile653Leu
ENST00000651091.1:c.1647A>C	ENSP00000498677.1:n.1647A>C
ENST00000651275.1:c.1849A>C	ENSP00000498926.1:p.Ile617Leu
ENST00000651781.1:c.1037A>C
ENST00000651786.1:c.*1329A>C	ENSP00000498364.1:n.*1329A>C
ENST00000652096.1:c.*1362A>C	ENSP00000498896.1:n.*1362A>C
ENST00000366578.5:c.1957A>C	ENSP00000355537.4:p.Ile653Leu
ENST00000461367.1:n.166A>C
ENST00000542672.5:c.1957A>C	ENSP00000443495.1:p.Ile653Leu
ENST00000546208.5:c.1333A>C	ENSP00000438384.2:p.Ile445Leu
NM_001103.3:c.1957A>C	NP_001094.1:p.Ile653Leu
NM_001278343.1:c.1957A>C	NP_001265272.1:p.Ile653Leu
NM_001278344.1:c.1333A>C	NP_001265273.1:p.Ile445Leu
NM_001278343.2:c.1957A>C	NP_001265272.1:p.Ile653Leu
NM_001103.4:c.1957A>C MANE Select	NP_001094.1:p.Ile653Leu
NM_001278344.2:c.1333A>C	NP_001265273.1:p.Ile445Leu