Canonical Allele Identifier: CA345387023

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 635219
• ClinVar RCV Id: RCV000786086 ; RCV001349979
• dbSNP Id: rs1173244523
• MyVariant Identifiers: chr1:g.236917355G>A (hg19) ; chr1:g.236754055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754055G>A , CM000663.2:g.236754055G>A	GRCh38
NC_000001.10:g.236917355G>A , CM000663.1:g.236917355G>A	GRCh37
NC_000001.9:g.234983978G>A	NCBI36
NG_009081.1:g.72586G>A
NG_009081.2:g.94915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1948G>A	ENSP00000443495.1:p.Gly650Arg
ENST00000461367.2:n.244G>A
ENST00000492634.7:n.1878G>A
ENST00000682015.1:c.1855G>A	ENSP00000506961.1:p.Gly619Arg
ENST00000682692.1:n.3043G>A
ENST00000682966.1:n.7589G>A
ENST00000683111.1:c.*1234G>A	ENSP00000507913.1:n.*1234G>A
ENST00000683322.1:n.3300G>A
ENST00000684050.1:n.4586G>A
ENST00000684286.1:n.3503G>A
ENST00000684502.1:n.3245G>A
ENST00000684763.1:n.563G>A
ENST00000366578.6:c.1948G>A MANE Select	ENSP00000355537.4:p.Gly650Arg
ENST00000492634.6:n.1878G>A
ENST00000542672.6:c.1948G>A	ENSP00000443495.1:p.Gly650Arg
ENST00000651091.1:c.1638G>A	ENSP00000498677.1:n.1638G>A
ENST00000651275.1:c.1840G>A	ENSP00000498926.1:p.Gly614Arg
ENST00000651781.1:c.1028G>A
ENST00000651786.1:c.*1320G>A	ENSP00000498364.1:n.*1320G>A
ENST00000652096.1:c.*1353G>A	ENSP00000498896.1:n.*1353G>A
ENST00000366578.5:c.1948G>A	ENSP00000355537.4:p.Gly650Arg
ENST00000461367.1:n.157G>A
ENST00000542672.5:c.1948G>A	ENSP00000443495.1:p.Gly650Arg
ENST00000546208.5:c.1324G>A	ENSP00000438384.2:p.Gly442Arg
NM_001103.3:c.1948G>A	NP_001094.1:p.Gly650Arg
NM_001278343.1:c.1948G>A	NP_001265272.1:p.Gly650Arg
NM_001278344.1:c.1324G>A	NP_001265273.1:p.Gly442Arg
NM_001278343.2:c.1948G>A	NP_001265272.1:p.Gly650Arg
NM_001103.4:c.1948G>A MANE Select	NP_001094.1:p.Gly650Arg
NM_001278344.2:c.1324G>A	NP_001265273.1:p.Gly442Arg