Canonical Allele Identifier: CA345388717

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920817C>A (hg19) ; chr1:g.236757517C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757517C>A , CM000663.2:g.236757517C>A	GRCh38
NC_000001.10:g.236920817C>A , CM000663.1:g.236920817C>A	GRCh37
NC_000001.9:g.234987440C>A	NCBI36
NG_009081.1:g.76048C>A
NG_009081.2:g.98377C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2186C>A	ENSP00000443495.1:p.Thr729Lys
ENST00000461367.2:n.482C>A
ENST00000492634.7:n.2116C>A
ENST00000682015.1:c.2093C>A	ENSP00000506961.1:p.Thr698Lys
ENST00000682490.1:n.104C>A
ENST00000682692.1:n.3281C>A
ENST00000682966.1:n.7827C>A
ENST00000683111.1:c.*1472C>A	ENSP00000507913.1:n.*1472C>A
ENST00000683322.1:n.3538C>A
ENST00000683805.1:n.977C>A
ENST00000684050.1:n.4824C>A
ENST00000684122.1:n.333C>A
ENST00000684286.1:n.3741C>A
ENST00000684502.1:n.3483C>A
ENST00000684763.1:n.801C>A
ENST00000366578.6:c.2186C>A MANE Select	ENSP00000355537.4:p.Thr729Lys
ENST00000492634.6:n.2116C>A
ENST00000542672.6:c.2186C>A	ENSP00000443495.1:p.Thr729Lys
ENST00000651091.1:c.1876C>A	ENSP00000498677.1:n.1876C>A
ENST00000651275.1:c.2078C>A	ENSP00000498926.1:p.Thr693Lys
ENST00000651781.1:c.1266C>A
ENST00000651786.1:c.*1558C>A	ENSP00000498364.1:n.*1558C>A
ENST00000652096.1:c.*1591C>A	ENSP00000498896.1:n.*1591C>A
ENST00000366578.5:c.2186C>A	ENSP00000355537.4:p.Thr729Lys
ENST00000461367.1:n.395C>A
ENST00000542672.5:c.2186C>A	ENSP00000443495.1:p.Thr729Lys
ENST00000546208.5:c.1562C>A	ENSP00000438384.2:p.Thr521Lys
NM_001103.3:c.2186C>A	NP_001094.1:p.Thr729Lys
NM_001278343.1:c.2186C>A	NP_001265272.1:p.Thr729Lys
NM_001278344.1:c.1562C>A	NP_001265273.1:p.Thr521Lys
NM_001278343.2:c.2186C>A	NP_001265272.1:p.Thr729Lys
NM_001103.4:c.2186C>A MANE Select	NP_001094.1:p.Thr729Lys
NM_001278344.2:c.1562C>A	NP_001265273.1:p.Thr521Lys