Canonical Allele Identifier: CA423810211

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918480C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755180C>T , CM000663.2:g.236755180C>T	GRCh38
NC_000001.10:g.236918480C>T , CM000663.1:g.236918480C>T	GRCh37
NC_000001.9:g.234985103C>T	NCBI36
NG_009081.1:g.73711C>T
NG_009081.2:g.96040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2136C>T	ENSP00000443495.1:p.His712=
ENST00000461367.2:n.432C>T
ENST00000492634.7:n.2066C>T
ENST00000682015.1:c.2043C>T	ENSP00000506961.1:p.His681=
ENST00000682692.1:n.3231C>T
ENST00000682966.1:n.7777C>T
ENST00000683111.1:c.*1422C>T	ENSP00000507913.1:n.*1422C>T
ENST00000683322.1:n.3488C>T
ENST00000683805.1:n.927C>T
ENST00000684050.1:n.4774C>T
ENST00000684122.1:n.283C>T
ENST00000684286.1:n.3691C>T
ENST00000684502.1:n.3433C>T
ENST00000684763.1:n.751C>T
ENST00000366578.6:c.2136C>T MANE Select	ENSP00000355537.4:p.His712=
ENST00000492634.6:n.2066C>T
ENST00000542672.6:c.2136C>T	ENSP00000443495.1:p.His712=
ENST00000651091.1:c.1826C>T	ENSP00000498677.1:n.1826C>T
ENST00000651275.1:c.2028C>T	ENSP00000498926.1:p.His676=
ENST00000651781.1:c.1216C>T
ENST00000651786.1:c.*1508C>T	ENSP00000498364.1:n.*1508C>T
ENST00000652096.1:c.*1541C>T	ENSP00000498896.1:n.*1541C>T
ENST00000366578.5:c.2136C>T	ENSP00000355537.4:p.His712=
ENST00000461367.1:n.345C>T
ENST00000542672.5:c.2136C>T	ENSP00000443495.1:p.His712=
ENST00000546208.5:c.1512C>T	ENSP00000438384.2:p.His504=
NM_001103.3:c.2136C>T	NP_001094.1:p.His712=
NM_001278343.1:c.2136C>T	NP_001265272.1:p.His712=
NM_001278344.1:c.1512C>T	NP_001265273.1:p.His504=
NM_001278343.2:c.2136C>T	NP_001265272.1:p.His712=
NM_001103.4:c.2136C>T MANE Select	NP_001094.1:p.His712=
NM_001278344.2:c.1512C>T	NP_001265273.1:p.His504=