Canonical Allele Identifier: CA423811089

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762469-C-T
• MyVariant Identifiers: chr1:g.236925769C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762469C>T , CM000663.2:g.236762469C>T	GRCh38
NC_000001.10:g.236925769C>T , CM000663.1:g.236925769C>T	GRCh37
NC_000001.9:g.234992392C>T	NCBI36
NG_009081.1:g.81000C>T
NG_009081.2:g.103329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2535C>T	ENSP00000443495.1:p.Ile845=
ENST00000461367.2:n.831C>T
ENST00000492634.7:n.2465C>T
ENST00000682015.1:c.2442C>T	ENSP00000506961.1:p.Ile814=
ENST00000682490.1:n.453C>T
ENST00000682692.1:n.3630C>T
ENST00000682966.1:n.8176C>T
ENST00000683111.1:c.*1821C>T	ENSP00000507913.1:n.*1821C>T
ENST00000683322.1:n.3887C>T
ENST00000683805.1:n.1326C>T
ENST00000684050.1:n.5173C>T
ENST00000684122.1:n.1969C>T
ENST00000684286.1:n.4090C>T
ENST00000684502.1:n.3832C>T
ENST00000684763.1:n.1150C>T
ENST00000366578.6:c.2535C>T MANE Select	ENSP00000355537.4:p.Ile845=
ENST00000492634.6:n.2465C>T
ENST00000542672.6:c.2535C>T	ENSP00000443495.1:p.Ile845=
ENST00000651091.1:c.2225C>T	ENSP00000498677.1:n.2225C>T
ENST00000651275.1:c.2427C>T	ENSP00000498926.1:p.Ile809=
ENST00000651781.1:c.1615C>T
ENST00000651786.1:c.*1907C>T	ENSP00000498364.1:n.*1907C>T
ENST00000652096.1:c.*1940C>T	ENSP00000498896.1:n.*1940C>T
ENST00000366578.5:c.2535C>T	ENSP00000355537.4:p.Ile845=
ENST00000461367.1:n.744C>T
ENST00000542672.5:c.2535C>T	ENSP00000443495.1:p.Ile845=
ENST00000546208.5:c.1911C>T	ENSP00000438384.2:p.Ile637=
NM_001103.3:c.2535C>T	NP_001094.1:p.Ile845=
NM_001278343.1:c.2535C>T	NP_001265272.1:p.Ile845=
NM_001278344.1:c.1911C>T	NP_001265273.1:p.Ile637=
NM_001278343.2:c.2535C>T	NP_001265272.1:p.Ile845=
NM_001103.4:c.2535C>T MANE Select	NP_001094.1:p.Ile845=
NM_001278344.2:c.1911C>T	NP_001265273.1:p.Ile637=