Canonical Allele Identifier: CA345387775

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918493A>C (hg19) ; chr1:g.236755193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755193A>C , CM000663.2:g.236755193A>C	GRCh38
NC_000001.10:g.236918493A>C , CM000663.1:g.236918493A>C	GRCh37
NC_000001.9:g.234985116A>C	NCBI36
NG_009081.1:g.73724A>C
NG_009081.2:g.96053A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2149A>C	ENSP00000443495.1:p.Met717Leu
ENST00000461367.2:n.445A>C
ENST00000492634.7:n.2079A>C
ENST00000682015.1:c.2056A>C	ENSP00000506961.1:p.Met686Leu
ENST00000682692.1:n.3244A>C
ENST00000682966.1:n.7790A>C
ENST00000683111.1:c.*1435A>C	ENSP00000507913.1:n.*1435A>C
ENST00000683322.1:n.3501A>C
ENST00000683805.1:n.940A>C
ENST00000684050.1:n.4787A>C
ENST00000684122.1:n.296A>C
ENST00000684286.1:n.3704A>C
ENST00000684502.1:n.3446A>C
ENST00000684763.1:n.764A>C
ENST00000366578.6:c.2149A>C MANE Select	ENSP00000355537.4:p.Met717Leu
ENST00000492634.6:n.2079A>C
ENST00000542672.6:c.2149A>C	ENSP00000443495.1:p.Met717Leu
ENST00000651091.1:c.1839A>C	ENSP00000498677.1:n.1839A>C
ENST00000651275.1:c.2041A>C	ENSP00000498926.1:p.Met681Leu
ENST00000651781.1:c.1229A>C
ENST00000651786.1:c.*1521A>C	ENSP00000498364.1:n.*1521A>C
ENST00000652096.1:c.*1554A>C	ENSP00000498896.1:n.*1554A>C
ENST00000366578.5:c.2149A>C	ENSP00000355537.4:p.Met717Leu
ENST00000461367.1:n.358A>C
ENST00000542672.5:c.2149A>C	ENSP00000443495.1:p.Met717Leu
ENST00000546208.5:c.1525A>C	ENSP00000438384.2:p.Met509Leu
NM_001103.3:c.2149A>C	NP_001094.1:p.Met717Leu
NM_001278343.1:c.2149A>C	NP_001265272.1:p.Met717Leu
NM_001278344.1:c.1525A>C	NP_001265273.1:p.Met509Leu
NM_001278343.2:c.2149A>C	NP_001265272.1:p.Met717Leu
NM_001103.4:c.2149A>C MANE Select	NP_001094.1:p.Met717Leu
NM_001278344.2:c.1525A>C	NP_001265273.1:p.Met509Leu