Canonical Allele Identifier: CA335056

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 201654
• ClinVar RCV Id: RCV000183282 ; RCV002516925
• dbSNP Id: rs370341149
• gnomAD v3: 1-236762546-G-T
• gnomAD v4: 1-236762546-G-T
• MyVariant Identifiers: chr1:g.236925846G>T (hg19) ; chr1:g.236762546G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762546G>T , CM000663.2:g.236762546G>T	GRCh38
NC_000001.10:g.236925846G>T , CM000663.1:g.236925846G>T	GRCh37
NC_000001.9:g.234992469G>T	NCBI36
NG_009081.1:g.81077G>T
NG_009081.2:g.103406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2612G>T	ENSP00000443495.1:p.Gly871Val
ENST00000461367.2:n.908G>T
ENST00000492634.7:n.2542G>T
ENST00000682015.1:c.2519G>T	ENSP00000506961.1:p.Gly840Val
ENST00000682490.1:n.530G>T
ENST00000682692.1:n.3707G>T
ENST00000682966.1:n.8253G>T
ENST00000683111.1:c.*1898G>T	ENSP00000507913.1:n.*1898G>T
ENST00000683322.1:n.3964G>T
ENST00000683805.1:n.1403G>T
ENST00000684050.1:n.5250G>T
ENST00000684122.1:n.2046G>T
ENST00000684286.1:n.4167G>T
ENST00000684502.1:n.3909G>T
ENST00000684763.1:n.1227G>T
ENST00000366578.6:c.2612G>T MANE Select	ENSP00000355537.4:p.Gly871Val
ENST00000492634.6:n.2542G>T
ENST00000542672.6:c.2612G>T	ENSP00000443495.1:p.Gly871Val
ENST00000651091.1:c.2302G>T	ENSP00000498677.1:n.2302G>T
ENST00000651275.1:c.2504G>T	ENSP00000498926.1:p.Gly835Val
ENST00000651781.1:c.1692G>T
ENST00000651786.1:c.*1984G>T	ENSP00000498364.1:n.*1984G>T
ENST00000652096.1:c.*2017G>T	ENSP00000498896.1:n.*2017G>T
ENST00000366578.5:c.2612G>T	ENSP00000355537.4:p.Gly871Val
ENST00000461367.1:n.821G>T
ENST00000542672.5:c.2612G>T	ENSP00000443495.1:p.Gly871Val
ENST00000546208.5:c.1988G>T	ENSP00000438384.2:p.Gly663Val
NM_001103.3:c.2612G>T	NP_001094.1:p.Gly871Val
NM_001278343.1:c.2612G>T	NP_001265272.1:p.Gly871Val
NM_001278344.1:c.1988G>T	NP_001265273.1:p.Gly663Val
NM_001278343.2:c.2612G>T	NP_001265272.1:p.Gly871Val
NM_001103.4:c.2612G>T MANE Select	NP_001094.1:p.Gly871Val
NM_001278344.2:c.1988G>T	NP_001265273.1:p.Gly663Val