Canonical Allele Identifier: CA345392723

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925915T>A (hg19) ; chr1:g.236762615T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762615T>A , CM000663.2:g.236762615T>A	GRCh38
NC_000001.10:g.236925915T>A , CM000663.1:g.236925915T>A	GRCh37
NC_000001.9:g.234992538T>A	NCBI36
NG_009081.1:g.81146T>A
NG_009081.2:g.103475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2681T>A	ENSP00000443495.1:p.Leu894Gln
ENST00000461367.2:n.977T>A
ENST00000492634.7:n.2611T>A
ENST00000682015.1:c.2588T>A	ENSP00000506961.1:p.Leu863Gln
ENST00000682490.1:n.599T>A
ENST00000682692.1:n.3776T>A
ENST00000682966.1:n.8322T>A
ENST00000683111.1:c.*1967T>A	ENSP00000507913.1:n.*1967T>A
ENST00000683322.1:n.4033T>A
ENST00000683805.1:n.1472T>A
ENST00000684050.1:n.5319T>A
ENST00000684122.1:n.2115T>A
ENST00000684286.1:n.4236T>A
ENST00000684502.1:n.3978T>A
ENST00000684763.1:n.1296T>A
ENST00000366578.6:c.2681T>A MANE Select	ENSP00000355537.4:p.Leu894Gln
ENST00000492634.6:n.2611T>A
ENST00000542672.6:c.2681T>A	ENSP00000443495.1:p.Leu894Gln
ENST00000651275.1:c.2573T>A	ENSP00000498926.1:p.Leu858Gln
ENST00000651781.1:c.1761T>A
ENST00000651786.1:c.*2053T>A	ENSP00000498364.1:n.*2053T>A
ENST00000652096.1:c.*2086T>A	ENSP00000498896.1:n.*2086T>A
ENST00000366578.5:c.2681T>A	ENSP00000355537.4:p.Leu894Gln
ENST00000542672.5:c.2681T>A	ENSP00000443495.1:p.Leu894Gln
ENST00000546208.5:c.2057T>A	ENSP00000438384.2:p.Leu686Gln
NM_001103.3:c.2681T>A	NP_001094.1:p.Leu894Gln
NM_001278343.1:c.2681T>A	NP_001265272.1:p.Leu894Gln
NM_001278344.1:c.2057T>A	NP_001265273.1:p.Leu686Gln
NM_001278343.2:c.2681T>A	NP_001265272.1:p.Leu894Gln
NM_001103.4:c.2681T>A MANE Select	NP_001094.1:p.Leu894Gln
NM_001278344.2:c.2057T>A	NP_001265273.1:p.Leu686Gln