Canonical Allele Identifier: CA2651182861

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762688-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762688_236762689insGT , CM000663.2:g.236762688_236762689insGT	GRCh38
NC_000001.10:g.236925988_236925989insGT , CM000663.1:g.236925988_236925989insGT	GRCh37
NC_000001.9:g.234992611_234992612insGT	NCBI36
NG_009081.1:g.81219_81220insGT
NG_009081.2:g.103548_103549insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*69_*70insGT	ENSP00000443495.1:n.*69_*70insGT
ENST00000461367.2:n.1050_1051insGT
ENST00000492634.7:n.2684_2685insGT
ENST00000682015.1:c.*69_*70insGT	ENSP00000506961.1:n.*69_*70insGT
ENST00000682490.1:n.672_673insGT
ENST00000682692.1:n.3849_3850insGT
ENST00000682966.1:n.8395_8396insGT
ENST00000683111.1:c.*2040_*2041insGT	ENSP00000507913.1:n.*2040_*2041insGT
ENST00000683322.1:n.4106_4107insGT
ENST00000683805.1:n.1545_1546insGT
ENST00000684050.1:n.5392_5393insGT
ENST00000684122.1:n.2188_2189insGT
ENST00000684286.1:n.4309_4310insGT
ENST00000684502.1:n.4051_4052insGT
ENST00000684763.1:n.1369_1370insGT
ENST00000366578.6:c.*69_*70insGT MANE Select	ENSP00000355537.4:n.*69_*70insGT
ENST00000492634.6:n.2684_2685insGT
ENST00000542672.6:c.*69_*70insGT	ENSP00000443495.1:n.*69_*70insGT
ENST00000651275.1:c.2646_2647insGT	ENSP00000498926.1:n.2646_2647insGT
ENST00000651781.1:c.1834_1835insGT
ENST00000651786.1:c.*2126_*2127insGT	ENSP00000498364.1:n.*2126_*2127insGT
ENST00000652096.1:c.*2159_*2160insGT	ENSP00000498896.1:n.*2159_*2160insGT
ENST00000366578.5:c.*69_*70insGT	ENSP00000355537.4:n.*69_*70insGT
ENST00000542672.5:c.*69_*70insGT	ENSP00000443495.1:n.*69_*70insGT
ENST00000546208.5:c.*69_*70insGT	ENSP00000438384.2:n.*69_*70insGT
NM_001103.3:c.*69_*70insGT	NP_001094.1:n.*69_*70insGT
NM_001278343.1:c.*69_*70insGT	NP_001265272.1:n.*69_*70insGT
NM_001278344.1:c.*69_*70insGT	NP_001265273.1:n.*69_*70insGT
NM_001278343.2:c.*69_*70insGT	NP_001265272.1:n.*69_*70insGT
NM_001103.4:c.*69_*70insGT MANE Select	NP_001094.1:n.*69_*70insGT
NM_001278344.2:c.*69_*70insGT	NP_001265273.1:n.*69_*70insGT