Canonical Allele Identifier: CA2499214570

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1056609
• ClinVar RCV Id: RCV001365469
• dbSNP Id: rs2102953618

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762472_236762473delinsTC , CM000663.2:g.236762472_236762473delinsTC	GRCh38
NC_000001.10:g.236925772_236925773delinsTC , CM000663.1:g.236925772_236925773delinsTC	GRCh37
NC_000001.9:g.234992395_234992396delinsTC	NCBI36
NG_009081.1:g.81003_81004delinsTC
NG_009081.2:g.103332_103333delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2538_2539delinsTC	ENSP00000443495.1:p.Ala847Pro
ENST00000461367.2:n.834_835delinsTC
ENST00000492634.7:n.2468_2469delinsTC
ENST00000682015.1:c.2445_2446delinsTC	ENSP00000506961.1:p.Ala816Pro
ENST00000682490.1:n.456_457delinsTC
ENST00000682692.1:n.3633_3634delinsTC
ENST00000682966.1:n.8179_8180delinsTC
ENST00000683111.1:c.*1824_*1825delinsTC	ENSP00000507913.1:n.*1824_*1825delinsTC
ENST00000683322.1:n.3890_3891delinsTC
ENST00000683805.1:n.1329_1330delinsTC
ENST00000684050.1:n.5176_5177delinsTC
ENST00000684122.1:n.1972_1973delinsTC
ENST00000684286.1:n.4093_4094delinsTC
ENST00000684502.1:n.3835_3836delinsTC
ENST00000684763.1:n.1153_1154delinsTC
ENST00000366578.6:c.2538_2539delinsTC MANE Select	ENSP00000355537.4:p.Ala847Pro
ENST00000492634.6:n.2468_2469delinsTC
ENST00000542672.6:c.2538_2539delinsTC	ENSP00000443495.1:p.Ala847Pro
ENST00000651091.1:c.2228_2229delinsTC	ENSP00000498677.1:n.2228_2229delinsTC
ENST00000651275.1:c.2430_2431delinsTC	ENSP00000498926.1:p.Ala811Pro
ENST00000651781.1:c.1618_1619delinsTC
ENST00000651786.1:c.*1910_*1911delinsTC	ENSP00000498364.1:n.*1910_*1911delinsTC
ENST00000652096.1:c.*1943_*1944delinsTC	ENSP00000498896.1:n.*1943_*1944delinsTC
ENST00000366578.5:c.2538_2539delinsTC	ENSP00000355537.4:p.Ala847Pro
ENST00000461367.1:n.747_748delinsTC
ENST00000542672.5:c.2538_2539delinsTC	ENSP00000443495.1:p.Ala847Pro
ENST00000546208.5:c.1914_1915delinsTC	ENSP00000438384.2:p.Ala639Pro
NM_001103.3:c.2538_2539delinsTC	NP_001094.1:p.Ala847Pro
NM_001278343.1:c.2538_2539delinsTC	NP_001265272.1:p.Ala847Pro
NM_001278344.1:c.1914_1915delinsTC	NP_001265273.1:p.Ala639Pro
NM_001278343.2:c.2538_2539delinsTC	NP_001265272.1:p.Ala847Pro
NM_001103.4:c.2538_2539delinsTC MANE Select	NP_001094.1:p.Ala847Pro
NM_001278344.2:c.1914_1915delinsTC	NP_001265273.1:p.Ala639Pro