Canonical Allele Identifier: CA733211193

Gene: ACTN2

Linked Data

• dbSNP Id: rs748941751
• gnomAD v3: 1-236754121-C-G
• gnomAD v4: 1-236754121-C-G
• MyVariant Identifiers: chr1:g.236917421C>G (hg19) ; chr1:g.236754121C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754121C>G , CM000663.2:g.236754121C>G	GRCh38
NC_000001.10:g.236917421C>G , CM000663.1:g.236917421C>G	GRCh37
NC_000001.9:g.234984044C>G	NCBI36
NG_009081.1:g.72652C>G
NG_009081.2:g.94981C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1974+40C>G	ENSP00000443495.1:n.1974+40C>G
ENST00000461367.2:n.270+40C>G
ENST00000492634.7:n.1904+40C>G
ENST00000682015.1:c.1881+40C>G	ENSP00000506961.1:n.1881+40C>G
ENST00000682692.1:n.3069+40C>G
ENST00000682966.1:n.7615+40C>G
ENST00000683111.1:c.*1260+40C>G	ENSP00000507913.1:n.*1260+40C>G
ENST00000683322.1:n.3326+40C>G
ENST00000684050.1:n.4612+40C>G
ENST00000684286.1:n.3529+40C>G
ENST00000684502.1:n.3271+40C>G
ENST00000684763.1:n.589+40C>G
ENST00000366578.6:c.1974+40C>G MANE Select	ENSP00000355537.4:n.1974+40C>G
ENST00000492634.6:n.1904+40C>G
ENST00000542672.6:c.1974+40C>G	ENSP00000443495.1:n.1974+40C>G
ENST00000651091.1:c.1664+40C>G	ENSP00000498677.1:n.1664+40C>G
ENST00000651275.1:c.1866+40C>G	ENSP00000498926.1:n.1866+40C>G
ENST00000651781.1:c.1054+40C>G
ENST00000651786.1:c.*1346+40C>G	ENSP00000498364.1:n.*1346+40C>G
ENST00000652096.1:c.*1379+40C>G	ENSP00000498896.1:n.*1379+40C>G
ENST00000366578.5:c.1974+40C>G	ENSP00000355537.4:n.1974+40C>G
ENST00000461367.1:n.183+40C>G
ENST00000542672.5:c.1974+40C>G	ENSP00000443495.1:n.1974+40C>G
ENST00000546208.5:c.1350+40C>G	ENSP00000438384.2:n.1350+40C>G
NM_001103.3:c.1974+40C>G	NP_001094.1:n.1974+40C>G
NM_001278343.1:c.1974+40C>G	NP_001265272.1:n.1974+40C>G
NM_001278344.1:c.1350+40C>G	NP_001265273.1:n.1350+40C>G
NM_001278343.2:c.1974+40C>G	NP_001265272.1:n.1974+40C>G
NM_001103.4:c.1974+40C>G MANE Select	NP_001094.1:n.1974+40C>G
NM_001278344.2:c.1350+40C>G	NP_001265273.1:n.1350+40C>G