Canonical Allele Identifier: CA423809515

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236910997C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747697C>A , CM000663.2:g.236747697C>A	GRCh38
NC_000001.10:g.236910997C>A , CM000663.1:g.236910997C>A	GRCh37
NC_000001.9:g.234977620C>A	NCBI36
NG_009081.1:g.66228C>A
NG_009081.2:g.88557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1437C>A	ENSP00000443495.1:p.Val479=
ENST00000492634.7:n.1367C>A
ENST00000682015.1:c.1344C>A	ENSP00000506961.1:p.Val448=
ENST00000682692.1:n.1184C>A
ENST00000682966.1:n.7078C>A
ENST00000683111.1:c.*723C>A	ENSP00000507913.1:n.*723C>A
ENST00000683322.1:n.2789C>A
ENST00000684050.1:n.4075C>A
ENST00000684286.1:n.2992C>A
ENST00000684502.1:n.1386C>A
ENST00000366578.6:c.1437C>A MANE Select	ENSP00000355537.4:p.Val479=
ENST00000492634.6:n.1367C>A
ENST00000542672.6:c.1437C>A	ENSP00000443495.1:p.Val479=
ENST00000651091.1:c.1127C>A	ENSP00000498677.1:n.1127C>A
ENST00000651275.1:c.1329C>A	ENSP00000498926.1:p.Val443=
ENST00000651781.1:c.517C>A
ENST00000651786.1:c.*809C>A	ENSP00000498364.1:n.*809C>A
ENST00000652096.1:c.*842C>A	ENSP00000498896.1:n.*842C>A
ENST00000366578.5:c.1437C>A	ENSP00000355537.4:p.Val479=
ENST00000542672.5:c.1437C>A	ENSP00000443495.1:p.Val479=
ENST00000546208.5:c.813C>A	ENSP00000438384.2:p.Val271=
NM_001103.3:c.1437C>A	NP_001094.1:p.Val479=
NM_001278343.1:c.1437C>A	NP_001265272.1:p.Val479=
NM_001278344.1:c.813C>A	NP_001265273.1:p.Val271=
NM_001278343.2:c.1437C>A	NP_001265272.1:p.Val479=
NM_001103.4:c.1437C>A MANE Select	NP_001094.1:p.Val479=
NM_001278344.2:c.813C>A	NP_001265273.1:p.Val271=