Canonical Allele Identifier: CA423811263

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925898C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762598C>A , CM000663.2:g.236762598C>A	GRCh38
NC_000001.10:g.236925898C>A , CM000663.1:g.236925898C>A	GRCh37
NC_000001.9:g.234992521C>A	NCBI36
NG_009081.1:g.81129C>A
NG_009081.2:g.103458C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2664C>A	ENSP00000443495.1:p.Leu888=
ENST00000461367.2:n.960C>A
ENST00000492634.7:n.2594C>A
ENST00000682015.1:c.2571C>A	ENSP00000506961.1:p.Leu857=
ENST00000682490.1:n.582C>A
ENST00000682692.1:n.3759C>A
ENST00000682966.1:n.8305C>A
ENST00000683111.1:c.*1950C>A	ENSP00000507913.1:n.*1950C>A
ENST00000683322.1:n.4016C>A
ENST00000683805.1:n.1455C>A
ENST00000684050.1:n.5302C>A
ENST00000684122.1:n.2098C>A
ENST00000684286.1:n.4219C>A
ENST00000684502.1:n.3961C>A
ENST00000684763.1:n.1279C>A
ENST00000366578.6:c.2664C>A MANE Select	ENSP00000355537.4:p.Leu888=
ENST00000492634.6:n.2594C>A
ENST00000542672.6:c.2664C>A	ENSP00000443495.1:p.Leu888=
ENST00000651275.1:c.2556C>A	ENSP00000498926.1:p.Leu852=
ENST00000651781.1:c.1744C>A
ENST00000651786.1:c.*2036C>A	ENSP00000498364.1:n.*2036C>A
ENST00000652096.1:c.*2069C>A	ENSP00000498896.1:n.*2069C>A
ENST00000366578.5:c.2664C>A	ENSP00000355537.4:p.Leu888=
ENST00000542672.5:c.2664C>A	ENSP00000443495.1:p.Leu888=
ENST00000546208.5:c.2040C>A	ENSP00000438384.2:p.Leu680=
NM_001103.3:c.2664C>A	NP_001094.1:p.Leu888=
NM_001278343.1:c.2664C>A	NP_001265272.1:p.Leu888=
NM_001278344.1:c.2040C>A	NP_001265273.1:p.Leu680=
NM_001278343.2:c.2664C>A	NP_001265272.1:p.Leu888=
NM_001103.4:c.2664C>A MANE Select	NP_001094.1:p.Leu888=
NM_001278344.2:c.2040C>A	NP_001265273.1:p.Leu680=