Canonical Allele Identifier: CA423809533

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911015A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747715A>G , CM000663.2:g.236747715A>G	GRCh38
NC_000001.10:g.236911015A>G , CM000663.1:g.236911015A>G	GRCh37
NC_000001.9:g.234977638A>G	NCBI36
NG_009081.1:g.66246A>G
NG_009081.2:g.88575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1455A>G	ENSP00000443495.1:p.Lys485=
ENST00000492634.7:n.1385A>G
ENST00000682015.1:c.1362A>G	ENSP00000506961.1:p.Lys454=
ENST00000682692.1:n.1202A>G
ENST00000682966.1:n.7096A>G
ENST00000683111.1:c.*741A>G	ENSP00000507913.1:n.*741A>G
ENST00000683322.1:n.2807A>G
ENST00000684050.1:n.4093A>G
ENST00000684286.1:n.3010A>G
ENST00000684502.1:n.1404A>G
ENST00000366578.6:c.1455A>G MANE Select	ENSP00000355537.4:p.Lys485=
ENST00000492634.6:n.1385A>G
ENST00000542672.6:c.1455A>G	ENSP00000443495.1:p.Lys485=
ENST00000651091.1:c.1145A>G	ENSP00000498677.1:n.1145A>G
ENST00000651275.1:c.1347A>G	ENSP00000498926.1:p.Lys449=
ENST00000651781.1:c.535A>G
ENST00000651786.1:c.*827A>G	ENSP00000498364.1:n.*827A>G
ENST00000652096.1:c.*860A>G	ENSP00000498896.1:n.*860A>G
ENST00000366578.5:c.1455A>G	ENSP00000355537.4:p.Lys485=
ENST00000492101.1:n.16A>G
ENST00000542672.5:c.1455A>G	ENSP00000443495.1:p.Lys485=
ENST00000546208.5:c.831A>G	ENSP00000438384.2:p.Lys277=
NM_001103.3:c.1455A>G	NP_001094.1:p.Lys485=
NM_001278343.1:c.1455A>G	NP_001265272.1:p.Lys485=
NM_001278344.1:c.831A>G	NP_001265273.1:p.Lys277=
NM_001278343.2:c.1455A>G	NP_001265272.1:p.Lys485=
NM_001103.4:c.1455A>G MANE Select	NP_001094.1:p.Lys485=
NM_001278344.2:c.831A>G	NP_001265273.1:p.Lys277=