Canonical Allele Identifier: CA335005

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 201627
• ClinVar RCV Id: RCV000183246 ; RCV000208364 ; RCV000250031 ; RCV000686874 ; RCV000853161 ; RCV002500547
• dbSNP Id: rs777124854
• ExAC: 1:236882230 G / A
• gnomAD v2: 1-236882230-G-A
• gnomAD v3: 1-236718930-G-A
• gnomAD v4: 1-236718930-G-A
• MyVariant Identifiers: chr1:g.236882230G>A (hg19) ; chr1:g.236718930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718930G>A , CM000663.2:g.236718930G>A	GRCh38
NC_000001.10:g.236882230G>A , CM000663.1:g.236882230G>A	GRCh37
NC_000001.9:g.234948853G>A	NCBI36
NG_009081.1:g.37461G>A
NG_009081.2:g.59790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.278G>A	ENSP00000443495.1:p.Arg93Gln
ENST00000492634.7:n.373G>A
ENST00000494762.2:n.27G>A
ENST00000682015.1:c.278G>A	ENSP00000506961.1:p.Arg93Gln
ENST00000682692.1:n.278G>A
ENST00000682966.1:n.277G>A
ENST00000683075.1:n.217G>A
ENST00000683111.1:c.221G>A	ENSP00000507913.1:p.Arg74Gln
ENST00000684050.1:n.313G>A
ENST00000684286.1:n.346G>A
ENST00000684502.1:n.313G>A
ENST00000366578.6:c.278G>A MANE Select	ENSP00000355537.4:p.Arg93Gln
ENST00000492634.6:n.373G>A
ENST00000542672.6:c.278G>A	ENSP00000443495.1:p.Arg93Gln
ENST00000651091.1:c.221G>A	ENSP00000498677.1:p.Arg74Gln
ENST00000651187.1:c.62G>A	ENSP00000498348.1:p.Arg21Gln
ENST00000651275.1:c.263G>A	ENSP00000498926.1:p.Arg88Gln
ENST00000651786.1:c.278G>A	ENSP00000498364.1:p.Arg93Gln
ENST00000652096.1:c.278G>A	ENSP00000498896.1:p.Arg93Gln
ENST00000366578.5:c.278G>A	ENSP00000355537.4:p.Arg93Gln
ENST00000492634.5:n.425G>A
ENST00000542672.5:c.278G>A	ENSP00000443495.1:p.Arg93Gln
ENST00000546208.5:c.-544G>A	ENSP00000438384.2:n.-544G>A
NM_001103.3:c.278G>A	NP_001094.1:p.Arg93Gln
NM_001278343.1:c.278G>A	NP_001265272.1:p.Arg93Gln
NM_001278344.1:c.-544G>A	NP_001265273.1:n.-544G>A
NM_001278343.2:c.278G>A	NP_001265272.1:p.Arg93Gln
NM_001103.4:c.278G>A MANE Select	NP_001094.1:p.Arg93Gln
NM_001278344.2:c.-544G>A	NP_001265273.1:n.-544G>A