Canonical Allele Identifier: CA345373639

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2942871
• ClinVar RCV Id: RCV003808037
• MyVariant Identifiers: chr1:g.236882281A>T (hg19) ; chr1:g.236718981A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718981A>T , CM000663.2:g.236718981A>T	GRCh38
NC_000001.10:g.236882281A>T , CM000663.1:g.236882281A>T	GRCh37
NC_000001.9:g.234948904A>T	NCBI36
NG_009081.1:g.37512A>T
NG_009081.2:g.59841A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.329A>T	ENSP00000443495.1:p.Lys110Ile
ENST00000492634.7:n.424A>T
ENST00000494762.2:n.78A>T
ENST00000682015.1:c.329A>T	ENSP00000506961.1:p.Lys110Ile
ENST00000682692.1:n.329A>T
ENST00000682966.1:n.328A>T
ENST00000683075.1:n.268A>T
ENST00000683111.1:c.272A>T	ENSP00000507913.1:p.Lys91Ile
ENST00000684050.1:n.364A>T
ENST00000684286.1:n.397A>T
ENST00000684502.1:n.364A>T
ENST00000366578.6:c.329A>T MANE Select	ENSP00000355537.4:p.Lys110Ile
ENST00000492634.6:n.424A>T
ENST00000542672.6:c.329A>T	ENSP00000443495.1:p.Lys110Ile
ENST00000651091.1:c.272A>T	ENSP00000498677.1:p.Lys91Ile
ENST00000651187.1:c.113A>T	ENSP00000498348.1:p.Lys38Ile
ENST00000651275.1:c.314A>T	ENSP00000498926.1:p.Lys105Ile
ENST00000651786.1:c.329A>T	ENSP00000498364.1:p.Lys110Ile
ENST00000652096.1:c.329A>T	ENSP00000498896.1:p.Lys110Ile
ENST00000366578.5:c.329A>T	ENSP00000355537.4:p.Lys110Ile
ENST00000492634.5:n.476A>T
ENST00000542672.5:c.329A>T	ENSP00000443495.1:p.Lys110Ile
ENST00000546208.5:c.-493A>T	ENSP00000438384.2:n.-493A>T
NM_001103.3:c.329A>T	NP_001094.1:p.Lys110Ile
NM_001278343.1:c.329A>T	NP_001265272.1:p.Lys110Ile
NM_001278344.1:c.-493A>T	NP_001265273.1:n.-493A>T
NM_001278343.2:c.329A>T	NP_001265272.1:p.Lys110Ile
NM_001103.4:c.329A>T MANE Select	NP_001094.1:p.Lys110Ile
NM_001278344.2:c.-493A>T	NP_001265273.1:n.-493A>T