Canonical Allele Identifier: CA1473006

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 238303
• ClinVar RCV Id: RCV000227885 ; RCV000489637 ; RCV000620436
• dbSNP Id: rs144025957
• ExAC: 1:236902624 C / T
• gnomAD v2: 1-236902624-C-T
• gnomAD v3: 1-236739324-C-T
• gnomAD v4: 1-236739324-C-T
• MyVariant Identifiers: chr1:g.236902624C>T (hg19) ; chr1:g.236739324C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236739324C>T , CM000663.2:g.236739324C>T	GRCh38
NC_000001.10:g.236902624C>T , CM000663.1:g.236902624C>T	GRCh37
NC_000001.9:g.234969247C>T	NCBI36
NG_009081.1:g.57855C>T
NG_009081.2:g.80184C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.899C>T	ENSP00000443495.1:p.Thr300Met
ENST00000492634.7:n.829C>T
ENST00000682015.1:c.806C>T	ENSP00000506961.1:p.Thr269Met
ENST00000682692.1:n.646C>T
ENST00000682966.1:n.6540C>T
ENST00000683111.1:c.*185C>T	ENSP00000507913.1:n.*185C>T
ENST00000683322.1:n.2251C>T
ENST00000684050.1:n.3537C>T
ENST00000684286.1:n.2454C>T
ENST00000684502.1:n.848C>T
ENST00000366578.6:c.899C>T MANE Select	ENSP00000355537.4:p.Thr300Met
ENST00000492634.6:n.829C>T
ENST00000542672.6:c.899C>T	ENSP00000443495.1:p.Thr300Met
ENST00000651091.1:c.589C>T	ENSP00000498677.1:n.589C>T
ENST00000651275.1:c.791C>T	ENSP00000498926.1:p.Thr264Met
ENST00000651781.1:c.210+2144C>T
ENST00000651786.1:c.*271C>T	ENSP00000498364.1:n.*271C>T
ENST00000652096.1:c.*304C>T	ENSP00000498896.1:n.*304C>T
ENST00000366578.5:c.899C>T	ENSP00000355537.4:p.Thr300Met
ENST00000492634.5:n.1132C>T
ENST00000494762.1:n.219C>T
ENST00000542672.5:c.899C>T	ENSP00000443495.1:p.Thr300Met
ENST00000546208.5:c.275C>T	ENSP00000438384.2:p.Thr92Met
NM_001103.3:c.899C>T	NP_001094.1:p.Thr300Met
NM_001278343.1:c.899C>T	NP_001265272.1:p.Thr300Met
NM_001278344.1:c.275C>T	NP_001265273.1:p.Thr92Met
NM_001278343.2:c.899C>T	NP_001265272.1:p.Thr300Met
NM_001103.4:c.899C>T MANE Select	NP_001094.1:p.Thr300Met
NM_001278344.2:c.275C>T	NP_001265273.1:p.Thr92Met