Canonical Allele Identifier: CA39748506

Gene: ACTN2

Linked Data

• dbSNP Id: rs199921605
• gnomAD v2: 1-236926025-A-AG
• gnomAD v3: 1-236762725-A-AG
• gnomAD v4: 1-236762725-A-AG
• COSMIC: COSN20124440
• MyVariant Identifiers: chr1:g.236926029_236926030insG (hg19) ; chr1:g.236926025_236926026insG (hg19) ; chr1:g.236762729_236762730insG (hg38) ; chr1:g.236762725_236762726insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762729dup , CM000663.2:g.236762729dup	GRCh38
NC_000001.10:g.236926029dup , CM000663.1:g.236926029dup	GRCh37
NC_000001.9:g.234992652dup	NCBI36
NG_009081.1:g.81260dup
NG_009081.2:g.103589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*110dup	ENSP00000443495.1:n.*110dup
ENST00000461367.2:n.1091dup
ENST00000492634.7:n.2725dup
ENST00000682015.1:c.*110dup	ENSP00000506961.1:n.*110dup
ENST00000682490.1:n.713dup
ENST00000682692.1:n.3890dup
ENST00000682966.1:n.8436dup
ENST00000683111.1:c.*2081dup	ENSP00000507913.1:n.*2081dup
ENST00000683322.1:n.4147dup
ENST00000683805.1:n.1586dup
ENST00000684050.1:n.5433dup
ENST00000684122.1:n.2229dup
ENST00000684286.1:n.4350dup
ENST00000684502.1:n.4092dup
ENST00000684763.1:n.1410dup
ENST00000366578.6:c.*110dup MANE Select	ENSP00000355537.4:n.*110dup
ENST00000492634.6:n.2725dup
ENST00000542672.6:c.*110dup	ENSP00000443495.1:n.*110dup
ENST00000651275.1:c.2687dup	ENSP00000498926.1:n.2687dup
ENST00000651781.1:c.1875dup
ENST00000652096.1:c.*2200dup	ENSP00000498896.1:n.*2200dup
ENST00000366578.5:c.*110dup	ENSP00000355537.4:n.*110dup
ENST00000542672.5:c.*110dup	ENSP00000443495.1:n.*110dup
ENST00000546208.5:c.*110dup	ENSP00000438384.2:n.*110dup
NM_001103.3:c.*110dup	NP_001094.1:n.*110dup
NM_001278343.1:c.*110dup	NP_001265272.1:n.*110dup
NM_001278344.1:c.*110dup	NP_001265273.1:n.*110dup
NM_001278343.2:c.*110dup	NP_001265272.1:n.*110dup
NM_001103.4:c.*110dup MANE Select	NP_001094.1:n.*110dup
NM_001278344.2:c.*110dup	NP_001265273.1:n.*110dup