Canonical Allele Identifier: CA423810060

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917354T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754054T>C , CM000663.2:g.236754054T>C	GRCh38
NC_000001.10:g.236917354T>C , CM000663.1:g.236917354T>C	GRCh37
NC_000001.9:g.234983977T>C	NCBI36
NG_009081.1:g.72585T>C
NG_009081.2:g.94914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1947T>C	ENSP00000443495.1:p.Ile649=
ENST00000461367.2:n.243T>C
ENST00000492634.7:n.1877T>C
ENST00000682015.1:c.1854T>C	ENSP00000506961.1:p.Ile618=
ENST00000682692.1:n.3042T>C
ENST00000682966.1:n.7588T>C
ENST00000683111.1:c.*1233T>C	ENSP00000507913.1:n.*1233T>C
ENST00000683322.1:n.3299T>C
ENST00000684050.1:n.4585T>C
ENST00000684286.1:n.3502T>C
ENST00000684502.1:n.3244T>C
ENST00000684763.1:n.562T>C
ENST00000366578.6:c.1947T>C MANE Select	ENSP00000355537.4:p.Ile649=
ENST00000492634.6:n.1877T>C
ENST00000542672.6:c.1947T>C	ENSP00000443495.1:p.Ile649=
ENST00000651091.1:c.1637T>C	ENSP00000498677.1:n.1637T>C
ENST00000651275.1:c.1839T>C	ENSP00000498926.1:p.Ile613=
ENST00000651781.1:c.1027T>C
ENST00000651786.1:c.*1319T>C	ENSP00000498364.1:n.*1319T>C
ENST00000652096.1:c.*1352T>C	ENSP00000498896.1:n.*1352T>C
ENST00000366578.5:c.1947T>C	ENSP00000355537.4:p.Ile649=
ENST00000461367.1:n.156T>C
ENST00000542672.5:c.1947T>C	ENSP00000443495.1:p.Ile649=
ENST00000546208.5:c.1323T>C	ENSP00000438384.2:p.Ile441=
NM_001103.3:c.1947T>C	NP_001094.1:p.Ile649=
NM_001278343.1:c.1947T>C	NP_001265272.1:p.Ile649=
NM_001278344.1:c.1323T>C	NP_001265273.1:p.Ile441=
NM_001278343.2:c.1947T>C	NP_001265272.1:p.Ile649=
NM_001103.4:c.1947T>C MANE Select	NP_001094.1:p.Ile649=
NM_001278344.2:c.1323T>C	NP_001265273.1:p.Ile441=