Canonical Allele Identifier: CA423811151

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925823C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762523C>T , CM000663.2:g.236762523C>T	GRCh38
NC_000001.10:g.236925823C>T , CM000663.1:g.236925823C>T	GRCh37
NC_000001.9:g.234992446C>T	NCBI36
NG_009081.1:g.81054C>T
NG_009081.2:g.103383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2589C>T	ENSP00000443495.1:p.Ile863=
ENST00000461367.2:n.885C>T
ENST00000492634.7:n.2519C>T
ENST00000682015.1:c.2496C>T	ENSP00000506961.1:p.Ile832=
ENST00000682490.1:n.507C>T
ENST00000682692.1:n.3684C>T
ENST00000682966.1:n.8230C>T
ENST00000683111.1:c.*1875C>T	ENSP00000507913.1:n.*1875C>T
ENST00000683322.1:n.3941C>T
ENST00000683805.1:n.1380C>T
ENST00000684050.1:n.5227C>T
ENST00000684122.1:n.2023C>T
ENST00000684286.1:n.4144C>T
ENST00000684502.1:n.3886C>T
ENST00000684763.1:n.1204C>T
ENST00000366578.6:c.2589C>T MANE Select	ENSP00000355537.4:p.Ile863=
ENST00000492634.6:n.2519C>T
ENST00000542672.6:c.2589C>T	ENSP00000443495.1:p.Ile863=
ENST00000651091.1:c.2279C>T	ENSP00000498677.1:n.2279C>T
ENST00000651275.1:c.2481C>T	ENSP00000498926.1:p.Ile827=
ENST00000651781.1:c.1669C>T
ENST00000651786.1:c.*1961C>T	ENSP00000498364.1:n.*1961C>T
ENST00000652096.1:c.*1994C>T	ENSP00000498896.1:n.*1994C>T
ENST00000366578.5:c.2589C>T	ENSP00000355537.4:p.Ile863=
ENST00000461367.1:n.798C>T
ENST00000542672.5:c.2589C>T	ENSP00000443495.1:p.Ile863=
ENST00000546208.5:c.1965C>T	ENSP00000438384.2:p.Ile655=
NM_001103.3:c.2589C>T	NP_001094.1:p.Ile863=
NM_001278343.1:c.2589C>T	NP_001265272.1:p.Ile863=
NM_001278344.1:c.1965C>T	NP_001265273.1:p.Ile655=
NM_001278343.2:c.2589C>T	NP_001265272.1:p.Ile863=
NM_001103.4:c.2589C>T MANE Select	NP_001094.1:p.Ile863=
NM_001278344.2:c.1965C>T	NP_001265273.1:p.Ile655=