Canonical Allele Identifier: CA345392521

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925861C>A (hg19) ; chr1:g.236762561C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762561C>A , CM000663.2:g.236762561C>A	GRCh38
NC_000001.10:g.236925861C>A , CM000663.1:g.236925861C>A	GRCh37
NC_000001.9:g.234992484C>A	NCBI36
NG_009081.1:g.81092C>A
NG_009081.2:g.103421C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2627C>A	ENSP00000443495.1:p.Pro876His
ENST00000461367.2:n.923C>A
ENST00000492634.7:n.2557C>A
ENST00000682015.1:c.2534C>A	ENSP00000506961.1:p.Pro845His
ENST00000682490.1:n.545C>A
ENST00000682692.1:n.3722C>A
ENST00000682966.1:n.8268C>A
ENST00000683111.1:c.*1913C>A	ENSP00000507913.1:n.*1913C>A
ENST00000683322.1:n.3979C>A
ENST00000683805.1:n.1418C>A
ENST00000684050.1:n.5265C>A
ENST00000684122.1:n.2061C>A
ENST00000684286.1:n.4182C>A
ENST00000684502.1:n.3924C>A
ENST00000684763.1:n.1242C>A
ENST00000366578.6:c.2627C>A MANE Select	ENSP00000355537.4:p.Pro876His
ENST00000492634.6:n.2557C>A
ENST00000542672.6:c.2627C>A	ENSP00000443495.1:p.Pro876His
ENST00000651091.1:c.2317C>A	ENSP00000498677.1:n.2317C>A
ENST00000651275.1:c.2519C>A	ENSP00000498926.1:p.Pro840His
ENST00000651781.1:c.1707C>A
ENST00000651786.1:c.*1999C>A	ENSP00000498364.1:n.*1999C>A
ENST00000652096.1:c.*2032C>A	ENSP00000498896.1:n.*2032C>A
ENST00000366578.5:c.2627C>A	ENSP00000355537.4:p.Pro876His
ENST00000461367.1:n.836C>A
ENST00000542672.5:c.2627C>A	ENSP00000443495.1:p.Pro876His
ENST00000546208.5:c.2003C>A	ENSP00000438384.2:p.Pro668His
NM_001103.3:c.2627C>A	NP_001094.1:p.Pro876His
NM_001278343.1:c.2627C>A	NP_001265272.1:p.Pro876His
NM_001278344.1:c.2003C>A	NP_001265273.1:p.Pro668His
NM_001278343.2:c.2627C>A	NP_001265272.1:p.Pro876His
NM_001103.4:c.2627C>A MANE Select	NP_001094.1:p.Pro876His
NM_001278344.2:c.2003C>A	NP_001265273.1:p.Pro668His