Canonical Allele Identifier: CA423811284

Gene: ACTN2

Linked Data

• dbSNP Id: rs1572153640
• MyVariant Identifiers: chr1:g.236925916G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762616G>C , CM000663.2:g.236762616G>C	GRCh38
NC_000001.10:g.236925916G>C , CM000663.1:g.236925916G>C	GRCh37
NC_000001.9:g.234992539G>C	NCBI36
NG_009081.1:g.81147G>C
NG_009081.2:g.103476G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2682G>C	ENSP00000443495.1:p.Leu894=
ENST00000461367.2:n.978G>C
ENST00000492634.7:n.2612G>C
ENST00000682015.1:c.2589G>C	ENSP00000506961.1:p.Leu863=
ENST00000682490.1:n.600G>C
ENST00000682692.1:n.3777G>C
ENST00000682966.1:n.8323G>C
ENST00000683111.1:c.*1968G>C	ENSP00000507913.1:n.*1968G>C
ENST00000683322.1:n.4034G>C
ENST00000683805.1:n.1473G>C
ENST00000684050.1:n.5320G>C
ENST00000684122.1:n.2116G>C
ENST00000684286.1:n.4237G>C
ENST00000684502.1:n.3979G>C
ENST00000684763.1:n.1297G>C
ENST00000366578.6:c.2682G>C MANE Select	ENSP00000355537.4:p.Leu894=
ENST00000492634.6:n.2612G>C
ENST00000542672.6:c.2682G>C	ENSP00000443495.1:p.Leu894=
ENST00000651275.1:c.2574G>C	ENSP00000498926.1:p.Leu858=
ENST00000651781.1:c.1762G>C
ENST00000651786.1:c.*2054G>C	ENSP00000498364.1:n.*2054G>C
ENST00000652096.1:c.*2087G>C	ENSP00000498896.1:n.*2087G>C
ENST00000366578.5:c.2682G>C	ENSP00000355537.4:p.Leu894=
ENST00000542672.5:c.2682G>C	ENSP00000443495.1:p.Leu894=
ENST00000546208.5:c.2058G>C	ENSP00000438384.2:p.Leu686=
NM_001103.3:c.2682G>C	NP_001094.1:p.Leu894=
NM_001278343.1:c.2682G>C	NP_001265272.1:p.Leu894=
NM_001278344.1:c.2058G>C	NP_001265273.1:p.Leu686=
NM_001278343.2:c.2682G>C	NP_001265272.1:p.Leu894=
NM_001103.4:c.2682G>C MANE Select	NP_001094.1:p.Leu894=
NM_001278344.2:c.2058G>C	NP_001265273.1:p.Leu686=