Canonical Allele Identifier: CA39741960

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 660556
• ClinVar RCV Id: RCV000817771 ; RCV001101127 ; RCV002427029 ; RCV002487810
• dbSNP Id: rs767655336
• gnomAD v2: 1-236918503-G-A
• gnomAD v3: 1-236755203-G-A
• gnomAD v4: 1-236755203-G-A
• COSMIC: COSM6042426 ; COSM6042427
• MyVariant Identifiers: chr1:g.236918503G>A (hg19) ; chr1:g.236755203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755203G>A , CM000663.2:g.236755203G>A	GRCh38
NC_000001.10:g.236918503G>A , CM000663.1:g.236918503G>A	GRCh37
NC_000001.9:g.234985126G>A	NCBI36
NG_009081.1:g.73734G>A
NG_009081.2:g.96063G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2154+5G>A	ENSP00000443495.1:n.2154+5G>A
ENST00000461367.2:n.450+5G>A
ENST00000492634.7:n.2084+5G>A
ENST00000682015.1:c.2061+5G>A	ENSP00000506961.1:n.2061+5G>A
ENST00000682692.1:n.3249+5G>A
ENST00000682966.1:n.7795+5G>A
ENST00000683111.1:c.*1440+5G>A	ENSP00000507913.1:n.*1440+5G>A
ENST00000683322.1:n.3506+5G>A
ENST00000683805.1:n.945+5G>A
ENST00000684050.1:n.4792+5G>A
ENST00000684122.1:n.301+5G>A
ENST00000684286.1:n.3709+5G>A
ENST00000684502.1:n.3451+5G>A
ENST00000684763.1:n.769+5G>A
ENST00000366578.6:c.2154+5G>A MANE Select	ENSP00000355537.4:n.2154+5G>A
ENST00000492634.6:n.2084+5G>A
ENST00000542672.6:c.2154+5G>A	ENSP00000443495.1:n.2154+5G>A
ENST00000651091.1:c.1844+5G>A	ENSP00000498677.1:n.1844+5G>A
ENST00000651275.1:c.2046+5G>A	ENSP00000498926.1:n.2046+5G>A
ENST00000651781.1:c.1234+5G>A
ENST00000651786.1:c.*1526+5G>A	ENSP00000498364.1:n.*1526+5G>A
ENST00000652096.1:c.*1559+5G>A	ENSP00000498896.1:n.*1559+5G>A
ENST00000366578.5:c.2154+5G>A	ENSP00000355537.4:n.2154+5G>A
ENST00000461367.1:n.363+5G>A
ENST00000542672.5:c.2154+5G>A	ENSP00000443495.1:n.2154+5G>A
ENST00000546208.5:c.1530+5G>A	ENSP00000438384.2:n.1530+5G>A
NM_001103.3:c.2154+5G>A	NP_001094.1:n.2154+5G>A
NM_001278343.1:c.2154+5G>A	NP_001265272.1:n.2154+5G>A
NM_001278344.1:c.1530+5G>A	NP_001265273.1:n.1530+5G>A
NM_001278343.2:c.2154+5G>A	NP_001265272.1:n.2154+5G>A
NM_001103.4:c.2154+5G>A MANE Select	NP_001094.1:n.2154+5G>A
NM_001278344.2:c.1530+5G>A	NP_001265273.1:n.1530+5G>A