Canonical Allele Identifier: CA133216

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 43946
• ClinVar RCV Id: RCV000036919 ; RCV001399428 ; RCV001723612
• dbSNP Id: rs397516584
• ExAC: 1:236898999 C / T
• gnomAD v2: 1-236898999-C-T
• gnomAD v4: 1-236735699-C-T
• COSMIC: COSM242800
• MyVariant Identifiers: chr1:g.236898999C>T (hg19) ; chr1:g.236735699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236735699C>T , CM000663.2:g.236735699C>T	GRCh38
NC_000001.10:g.236898999C>T , CM000663.1:g.236898999C>T	GRCh37
NC_000001.9:g.234965622C>T	NCBI36
NG_009081.1:g.54230C>T
NG_009081.2:g.76559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.783+1181C>T	ENSP00000443495.1:n.783+1181C>T
ENST00000492634.7:n.714-1423C>T
ENST00000494762.2:n.432C>T
ENST00000682015.1:c.762C>T	ENSP00000506961.1:p.His254=
ENST00000682692.1:n.531-1423C>T
ENST00000682966.1:n.5002C>T
ENST00000683111.1:c.*70-1423C>T	ENSP00000507913.1:n.*70-1423C>T
ENST00000683322.1:n.2229-3603C>T
ENST00000684050.1:n.1999C>T
ENST00000684286.1:n.916C>T
ENST00000684502.1:n.733-1423C>T
ENST00000366578.6:c.762C>T MANE Select	ENSP00000355537.4:p.His254=
ENST00000492634.6:n.714-1423C>T
ENST00000542672.6:c.783+1181C>T	ENSP00000443495.1:n.783+1181C>T
ENST00000651091.1:c.474-1423C>T	ENSP00000498677.1:n.474-1423C>T
ENST00000651275.1:c.768+1181C>T	ENSP00000498926.1:n.768+1181C>T
ENST00000651781.1:c.151+1181C>T
ENST00000651786.1:c.*134C>T	ENSP00000498364.1:n.*134C>T
ENST00000652096.1:c.*56C>T	ENSP00000498896.1:n.*56C>T
ENST00000366578.5:c.762C>T	ENSP00000355537.4:p.His254=
ENST00000492634.5:n.995C>T
ENST00000542672.5:c.783+1181C>T	ENSP00000443495.1:n.783+1181C>T
ENST00000546208.5:c.27C>T	ENSP00000438384.2:p.His9=
NM_001103.3:c.762C>T	NP_001094.1:p.His254=
NM_001278343.1:c.783+1181C>T	NP_001265272.1:n.783+1181C>T
NM_001278344.1:c.27C>T	NP_001265273.1:p.His9=
NM_001278343.2:c.783+1181C>T	NP_001265272.1:n.783+1181C>T
NM_001103.4:c.762C>T MANE Select	NP_001094.1:p.His254=
NM_001278344.2:c.27C>T	NP_001265273.1:p.His9=