Canonical Allele Identifier: CA345373629

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1360229
• ClinVar RCV Id: RCV001904782
• dbSNP Id: rs1658302140
• gnomAD v4: 1-236718977-A-G
• MyVariant Identifiers: chr1:g.236882277A>G (hg19) ; chr1:g.236718977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718977A>G , CM000663.2:g.236718977A>G	GRCh38
NC_000001.10:g.236882277A>G , CM000663.1:g.236882277A>G	GRCh37
NC_000001.9:g.234948900A>G	NCBI36
NG_009081.1:g.37508A>G
NG_009081.2:g.59837A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.325A>G	ENSP00000443495.1:p.Ser109Gly
ENST00000492634.7:n.420A>G
ENST00000494762.2:n.74A>G
ENST00000682015.1:c.325A>G	ENSP00000506961.1:p.Ser109Gly
ENST00000682692.1:n.325A>G
ENST00000682966.1:n.324A>G
ENST00000683075.1:n.264A>G
ENST00000683111.1:c.268A>G	ENSP00000507913.1:p.Ser90Gly
ENST00000684050.1:n.360A>G
ENST00000684286.1:n.393A>G
ENST00000684502.1:n.360A>G
ENST00000366578.6:c.325A>G MANE Select	ENSP00000355537.4:p.Ser109Gly
ENST00000492634.6:n.420A>G
ENST00000542672.6:c.325A>G	ENSP00000443495.1:p.Ser109Gly
ENST00000651091.1:c.268A>G	ENSP00000498677.1:p.Ser90Gly
ENST00000651187.1:c.109A>G	ENSP00000498348.1:p.Ser37Gly
ENST00000651275.1:c.310A>G	ENSP00000498926.1:p.Ser104Gly
ENST00000651786.1:c.325A>G	ENSP00000498364.1:p.Ser109Gly
ENST00000652096.1:c.325A>G	ENSP00000498896.1:p.Ser109Gly
ENST00000366578.5:c.325A>G	ENSP00000355537.4:p.Ser109Gly
ENST00000492634.5:n.472A>G
ENST00000542672.5:c.325A>G	ENSP00000443495.1:p.Ser109Gly
ENST00000546208.5:c.-497A>G	ENSP00000438384.2:n.-497A>G
NM_001103.3:c.325A>G	NP_001094.1:p.Ser109Gly
NM_001278343.1:c.325A>G	NP_001265272.1:p.Ser109Gly
NM_001278344.1:c.-497A>G	NP_001265273.1:n.-497A>G
NM_001278343.2:c.325A>G	NP_001265272.1:p.Ser109Gly
NM_001103.4:c.325A>G MANE Select	NP_001094.1:p.Ser109Gly
NM_001278344.2:c.-497A>G	NP_001265273.1:n.-497A>G