Canonical Allele Identifier: CA133168

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 43924
• ClinVar RCV Id: RCV000036894 ; RCV000231389 ; RCV000243361 ; RCV001171002 ; RCV001529806 ; RCV002477087 ; RCV004549447
• dbSNP Id: rs144122893
• ExAC: 1:236918420 C / T
• gnomAD v2: 1-236918420-C-T
• gnomAD v3: 1-236755120-C-T
• gnomAD v4: 1-236755120-C-T
• MyVariant Identifiers: chr1:g.236918420C>T (hg19) ; chr1:g.236755120C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755120C>T , CM000663.2:g.236755120C>T	GRCh38
NC_000001.10:g.236918420C>T , CM000663.1:g.236918420C>T	GRCh37
NC_000001.9:g.234985043C>T	NCBI36
NG_009081.1:g.73651C>T
NG_009081.2:g.95980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2076C>T	ENSP00000443495.1:p.Ile692=
ENST00000461367.2:n.372C>T
ENST00000492634.7:n.2006C>T
ENST00000682015.1:c.1983C>T	ENSP00000506961.1:p.Ile661=
ENST00000682692.1:n.3171C>T
ENST00000682966.1:n.7717C>T
ENST00000683111.1:c.*1362C>T	ENSP00000507913.1:n.*1362C>T
ENST00000683322.1:n.3428C>T
ENST00000683805.1:n.867C>T
ENST00000684050.1:n.4714C>T
ENST00000684122.1:n.223C>T
ENST00000684286.1:n.3631C>T
ENST00000684502.1:n.3373C>T
ENST00000684763.1:n.691C>T
ENST00000366578.6:c.2076C>T MANE Select	ENSP00000355537.4:p.Ile692=
ENST00000492634.6:n.2006C>T
ENST00000542672.6:c.2076C>T	ENSP00000443495.1:p.Ile692=
ENST00000651091.1:c.1766C>T	ENSP00000498677.1:n.1766C>T
ENST00000651275.1:c.1968C>T	ENSP00000498926.1:p.Ile656=
ENST00000651781.1:c.1156C>T
ENST00000651786.1:c.*1448C>T	ENSP00000498364.1:n.*1448C>T
ENST00000652096.1:c.*1481C>T	ENSP00000498896.1:n.*1481C>T
ENST00000366578.5:c.2076C>T	ENSP00000355537.4:p.Ile692=
ENST00000461367.1:n.285C>T
ENST00000542672.5:c.2076C>T	ENSP00000443495.1:p.Ile692=
ENST00000546208.5:c.1452C>T	ENSP00000438384.2:p.Ile484=
NM_001103.3:c.2076C>T	NP_001094.1:p.Ile692=
NM_001278343.1:c.2076C>T	NP_001265272.1:p.Ile692=
NM_001278344.1:c.1452C>T	NP_001265273.1:p.Ile484=
NM_001278343.2:c.2076C>T	NP_001265272.1:p.Ile692=
NM_001103.4:c.2076C>T MANE Select	NP_001094.1:p.Ile692=
NM_001278344.2:c.1452C>T	NP_001265273.1:p.Ile484=