Canonical Allele Identifier: CA16617092

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 423735
• ClinVar RCV Id: RCV000482951
• dbSNP Id: rs1064796605
• gnomAD v4: 1-236762473-G-A
• MyVariant Identifiers: chr1:g.236925773G>A (hg19) ; chr1:g.236762473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762473G>A , CM000663.2:g.236762473G>A	GRCh38
NC_000001.10:g.236925773G>A , CM000663.1:g.236925773G>A	GRCh37
NC_000001.9:g.234992396G>A	NCBI36
NG_009081.1:g.81004G>A
NG_009081.2:g.103333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2539G>A	ENSP00000443495.1:p.Ala847Thr
ENST00000461367.2:n.835G>A
ENST00000492634.7:n.2469G>A
ENST00000682015.1:c.2446G>A	ENSP00000506961.1:p.Ala816Thr
ENST00000682490.1:n.457G>A
ENST00000682692.1:n.3634G>A
ENST00000682966.1:n.8180G>A
ENST00000683111.1:c.*1825G>A	ENSP00000507913.1:n.*1825G>A
ENST00000683322.1:n.3891G>A
ENST00000683805.1:n.1330G>A
ENST00000684050.1:n.5177G>A
ENST00000684122.1:n.1973G>A
ENST00000684286.1:n.4094G>A
ENST00000684502.1:n.3836G>A
ENST00000684763.1:n.1154G>A
ENST00000366578.6:c.2539G>A MANE Select	ENSP00000355537.4:p.Ala847Thr
ENST00000492634.6:n.2469G>A
ENST00000542672.6:c.2539G>A	ENSP00000443495.1:p.Ala847Thr
ENST00000651091.1:c.2229G>A	ENSP00000498677.1:n.2229G>A
ENST00000651275.1:c.2431G>A	ENSP00000498926.1:p.Ala811Thr
ENST00000651781.1:c.1619G>A
ENST00000651786.1:c.*1911G>A	ENSP00000498364.1:n.*1911G>A
ENST00000652096.1:c.*1944G>A	ENSP00000498896.1:n.*1944G>A
ENST00000366578.5:c.2539G>A	ENSP00000355537.4:p.Ala847Thr
ENST00000461367.1:n.748G>A
ENST00000542672.5:c.2539G>A	ENSP00000443495.1:p.Ala847Thr
ENST00000546208.5:c.1915G>A	ENSP00000438384.2:p.Ala639Thr
NM_001103.3:c.2539G>A	NP_001094.1:p.Ala847Thr
NM_001278343.1:c.2539G>A	NP_001265272.1:p.Ala847Thr
NM_001278344.1:c.1915G>A	NP_001265273.1:p.Ala639Thr
NM_001278343.2:c.2539G>A	NP_001265272.1:p.Ala847Thr
NM_001103.4:c.2539G>A MANE Select	NP_001094.1:p.Ala847Thr
NM_001278344.2:c.1915G>A	NP_001265273.1:p.Ala639Thr