Canonical Allele Identifier: CA345388714

Gene: ACTN2

Linked Data

• COSMIC: COSM1690004
• MyVariant Identifiers: chr1:g.236920816A>G (hg19) ; chr1:g.236757516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757516A>G , CM000663.2:g.236757516A>G	GRCh38
NC_000001.10:g.236920816A>G , CM000663.1:g.236920816A>G	GRCh37
NC_000001.9:g.234987439A>G	NCBI36
NG_009081.1:g.76047A>G
NG_009081.2:g.98376A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2185A>G	ENSP00000443495.1:p.Thr729Ala
ENST00000461367.2:n.481A>G
ENST00000492634.7:n.2115A>G
ENST00000682015.1:c.2092A>G	ENSP00000506961.1:p.Thr698Ala
ENST00000682490.1:n.103A>G
ENST00000682692.1:n.3280A>G
ENST00000682966.1:n.7826A>G
ENST00000683111.1:c.*1471A>G	ENSP00000507913.1:n.*1471A>G
ENST00000683322.1:n.3537A>G
ENST00000683805.1:n.976A>G
ENST00000684050.1:n.4823A>G
ENST00000684122.1:n.332A>G
ENST00000684286.1:n.3740A>G
ENST00000684502.1:n.3482A>G
ENST00000684763.1:n.800A>G
ENST00000366578.6:c.2185A>G MANE Select	ENSP00000355537.4:p.Thr729Ala
ENST00000492634.6:n.2115A>G
ENST00000542672.6:c.2185A>G	ENSP00000443495.1:p.Thr729Ala
ENST00000651091.1:c.1875A>G	ENSP00000498677.1:n.1875A>G
ENST00000651275.1:c.2077A>G	ENSP00000498926.1:p.Thr693Ala
ENST00000651781.1:c.1265A>G
ENST00000651786.1:c.*1557A>G	ENSP00000498364.1:n.*1557A>G
ENST00000652096.1:c.*1590A>G	ENSP00000498896.1:n.*1590A>G
ENST00000366578.5:c.2185A>G	ENSP00000355537.4:p.Thr729Ala
ENST00000461367.1:n.394A>G
ENST00000542672.5:c.2185A>G	ENSP00000443495.1:p.Thr729Ala
ENST00000546208.5:c.1561A>G	ENSP00000438384.2:p.Thr521Ala
NM_001103.3:c.2185A>G	NP_001094.1:p.Thr729Ala
NM_001278343.1:c.2185A>G	NP_001265272.1:p.Thr729Ala
NM_001278344.1:c.1561A>G	NP_001265273.1:p.Thr521Ala
NM_001278343.2:c.2185A>G	NP_001265272.1:p.Thr729Ala
NM_001103.4:c.2185A>G MANE Select	NP_001094.1:p.Thr729Ala
NM_001278344.2:c.1561A>G	NP_001265273.1:p.Thr521Ala