Canonical Allele Identifier: CA1473489

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 373652
• ClinVar RCV Id: RCV000413705 ; RCV000531943 ; RCV001560227 ; RCV002470854 ; RCV002436240
• dbSNP Id: rs141563497
• ExAC: 1:236925785 C / T
• gnomAD v2: 1-236925785-C-T
• gnomAD v3: 1-236762485-C-T
• gnomAD v4: 1-236762485-C-T
• COSMIC: COSM1639758 ; COSM4233962
• MyVariant Identifiers: chr1:g.236925785C>T (hg19) ; chr1:g.236762485C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762485C>T , CM000663.2:g.236762485C>T	GRCh38
NC_000001.10:g.236925785C>T , CM000663.1:g.236925785C>T	GRCh37
NC_000001.9:g.234992408C>T	NCBI36
NG_009081.1:g.81016C>T
NG_009081.2:g.103345C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2551C>T	ENSP00000443495.1:p.Arg851Cys
ENST00000461367.2:n.847C>T
ENST00000492634.7:n.2481C>T
ENST00000682015.1:c.2458C>T	ENSP00000506961.1:p.Arg820Cys
ENST00000682490.1:n.469C>T
ENST00000682692.1:n.3646C>T
ENST00000682966.1:n.8192C>T
ENST00000683111.1:c.*1837C>T	ENSP00000507913.1:n.*1837C>T
ENST00000683322.1:n.3903C>T
ENST00000683805.1:n.1342C>T
ENST00000684050.1:n.5189C>T
ENST00000684122.1:n.1985C>T
ENST00000684286.1:n.4106C>T
ENST00000684502.1:n.3848C>T
ENST00000684763.1:n.1166C>T
ENST00000366578.6:c.2551C>T MANE Select	ENSP00000355537.4:p.Arg851Cys
ENST00000492634.6:n.2481C>T
ENST00000542672.6:c.2551C>T	ENSP00000443495.1:p.Arg851Cys
ENST00000651091.1:c.2241C>T	ENSP00000498677.1:n.2241C>T
ENST00000651275.1:c.2443C>T	ENSP00000498926.1:p.Arg815Cys
ENST00000651781.1:c.1631C>T
ENST00000651786.1:c.*1923C>T	ENSP00000498364.1:n.*1923C>T
ENST00000652096.1:c.*1956C>T	ENSP00000498896.1:n.*1956C>T
ENST00000366578.5:c.2551C>T	ENSP00000355537.4:p.Arg851Cys
ENST00000461367.1:n.760C>T
ENST00000542672.5:c.2551C>T	ENSP00000443495.1:p.Arg851Cys
ENST00000546208.5:c.1927C>T	ENSP00000438384.2:p.Arg643Cys
NM_001103.3:c.2551C>T	NP_001094.1:p.Arg851Cys
NM_001278343.1:c.2551C>T	NP_001265272.1:p.Arg851Cys
NM_001278344.1:c.1927C>T	NP_001265273.1:p.Arg643Cys
NM_001278343.2:c.2551C>T	NP_001265272.1:p.Arg851Cys
NM_001103.4:c.2551C>T MANE Select	NP_001094.1:p.Arg851Cys
NM_001278344.2:c.1927C>T	NP_001265273.1:p.Arg643Cys