Canonical Allele Identifier: CA423810435

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920815G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757515G>T , CM000663.2:g.236757515G>T	GRCh38
NC_000001.10:g.236920815G>T , CM000663.1:g.236920815G>T	GRCh37
NC_000001.9:g.234987438G>T	NCBI36
NG_009081.1:g.76046G>T
NG_009081.2:g.98375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2184G>T	ENSP00000443495.1:p.Leu728=
ENST00000461367.2:n.480G>T
ENST00000492634.7:n.2114G>T
ENST00000682015.1:c.2091G>T	ENSP00000506961.1:p.Leu697=
ENST00000682490.1:n.102G>T
ENST00000682692.1:n.3279G>T
ENST00000682966.1:n.7825G>T
ENST00000683111.1:c.*1470G>T	ENSP00000507913.1:n.*1470G>T
ENST00000683322.1:n.3536G>T
ENST00000683805.1:n.975G>T
ENST00000684050.1:n.4822G>T
ENST00000684122.1:n.331G>T
ENST00000684286.1:n.3739G>T
ENST00000684502.1:n.3481G>T
ENST00000684763.1:n.799G>T
ENST00000366578.6:c.2184G>T MANE Select	ENSP00000355537.4:p.Leu728=
ENST00000492634.6:n.2114G>T
ENST00000542672.6:c.2184G>T	ENSP00000443495.1:p.Leu728=
ENST00000651091.1:c.1874G>T	ENSP00000498677.1:n.1874G>T
ENST00000651275.1:c.2076G>T	ENSP00000498926.1:p.Leu692=
ENST00000651781.1:c.1264G>T
ENST00000651786.1:c.*1556G>T	ENSP00000498364.1:n.*1556G>T
ENST00000652096.1:c.*1589G>T	ENSP00000498896.1:n.*1589G>T
ENST00000366578.5:c.2184G>T	ENSP00000355537.4:p.Leu728=
ENST00000461367.1:n.393G>T
ENST00000542672.5:c.2184G>T	ENSP00000443495.1:p.Leu728=
ENST00000546208.5:c.1560G>T	ENSP00000438384.2:p.Leu520=
NM_001103.3:c.2184G>T	NP_001094.1:p.Leu728=
NM_001278343.1:c.2184G>T	NP_001265272.1:p.Leu728=
NM_001278344.1:c.1560G>T	NP_001265273.1:p.Leu520=
NM_001278343.2:c.2184G>T	NP_001265272.1:p.Leu728=
NM_001103.4:c.2184G>T MANE Select	NP_001094.1:p.Leu728=
NM_001278344.2:c.1560G>T	NP_001265273.1:p.Leu520=