Canonical Allele Identifier: CA133190

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 43933
• ClinVar RCV Id: RCV000036905 ; RCV000860039 ; RCV000241737 ; RCV000382094 ; RCV000614267
• dbSNP Id: rs12063382
• ExAC: 1:236925844 G / A
• gnomAD v2: 1-236925844-G-A
• gnomAD v3: 1-236762544-G-A
• gnomAD v4: 1-236762544-G-A
• MyVariant Identifiers: chr1:g.236925844G>A (hg19) ; chr1:g.236762544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762544G>A , CM000663.2:g.236762544G>A	GRCh38
NC_000001.10:g.236925844G>A , CM000663.1:g.236925844G>A	GRCh37
NC_000001.9:g.234992467G>A	NCBI36
NG_009081.1:g.81075G>A
NG_009081.2:g.103404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2610G>A	ENSP00000443495.1:p.Ser870=
ENST00000461367.2:n.906G>A
ENST00000492634.7:n.2540G>A
ENST00000682015.1:c.2517G>A	ENSP00000506961.1:p.Ser839=
ENST00000682490.1:n.528G>A
ENST00000682692.1:n.3705G>A
ENST00000682966.1:n.8251G>A
ENST00000683111.1:c.*1896G>A	ENSP00000507913.1:n.*1896G>A
ENST00000683322.1:n.3962G>A
ENST00000683805.1:n.1401G>A
ENST00000684050.1:n.5248G>A
ENST00000684122.1:n.2044G>A
ENST00000684286.1:n.4165G>A
ENST00000684502.1:n.3907G>A
ENST00000684763.1:n.1225G>A
ENST00000366578.6:c.2610G>A MANE Select	ENSP00000355537.4:p.Ser870=
ENST00000492634.6:n.2540G>A
ENST00000542672.6:c.2610G>A	ENSP00000443495.1:p.Ser870=
ENST00000651091.1:c.2300G>A	ENSP00000498677.1:n.2300G>A
ENST00000651275.1:c.2502G>A	ENSP00000498926.1:p.Ser834=
ENST00000651781.1:c.1690G>A
ENST00000651786.1:c.*1982G>A	ENSP00000498364.1:n.*1982G>A
ENST00000652096.1:c.*2015G>A	ENSP00000498896.1:n.*2015G>A
ENST00000366578.5:c.2610G>A	ENSP00000355537.4:p.Ser870=
ENST00000461367.1:n.819G>A
ENST00000542672.5:c.2610G>A	ENSP00000443495.1:p.Ser870=
ENST00000546208.5:c.1986G>A	ENSP00000438384.2:p.Ser662=
NM_001103.3:c.2610G>A	NP_001094.1:p.Ser870=
NM_001278343.1:c.2610G>A	NP_001265272.1:p.Ser870=
NM_001278344.1:c.1986G>A	NP_001265273.1:p.Ser662=
NM_001278343.2:c.2610G>A	NP_001265272.1:p.Ser870=
NM_001103.4:c.2610G>A MANE Select	NP_001094.1:p.Ser870=
NM_001278344.2:c.1986G>A	NP_001265273.1:p.Ser662=