Canonical Allele Identifier: CA2580062379

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1793836
• ClinVar RCV Id: RCV002426352 ; RCV003102030

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762548_236762550delinsGAG , CM000663.2:g.236762548_236762550delinsGAG	GRCh38
NC_000001.10:g.236925848_236925850delinsGAG , CM000663.1:g.236925848_236925850delinsGAG	GRCh37
NC_000001.9:g.234992471_234992473delinsGAG	NCBI36
NG_009081.1:g.81079_81081delinsGAG
NG_009081.2:g.103408_103410delinsGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2614_2616delinsGAG	ENSP00000443495.1:p.Pro872Glu
ENST00000461367.2:n.910_912delinsGAG
ENST00000492634.7:n.2544_2546delinsGAG
ENST00000682015.1:c.2521_2523delinsGAG	ENSP00000506961.1:p.Pro841Glu
ENST00000682490.1:n.532_534delinsGAG
ENST00000682692.1:n.3709_3711delinsGAG
ENST00000682966.1:n.8255_8257delinsGAG
ENST00000683111.1:c.*1900_*1902delinsGAG	ENSP00000507913.1:n.*1900_*1902delinsGAG
ENST00000683322.1:n.3966_3968delinsGAG
ENST00000683805.1:n.1405_1407delinsGAG
ENST00000684050.1:n.5252_5254delinsGAG
ENST00000684122.1:n.2048_2050delinsGAG
ENST00000684286.1:n.4169_4171delinsGAG
ENST00000684502.1:n.3911_3913delinsGAG
ENST00000684763.1:n.1229_1231delinsGAG
ENST00000366578.6:c.2614_2616delinsGAG MANE Select	ENSP00000355537.4:p.Pro872Glu
ENST00000492634.6:n.2544_2546delinsGAG
ENST00000542672.6:c.2614_2616delinsGAG	ENSP00000443495.1:p.Pro872Glu
ENST00000651091.1:c.2304_2306delinsGAG	ENSP00000498677.1:n.2304_2306delinsGAG
ENST00000651275.1:c.2506_2508delinsGAG	ENSP00000498926.1:p.Pro836Glu
ENST00000651781.1:c.1694_1696delinsGAG
ENST00000651786.1:c.*1986_*1988delinsGAG	ENSP00000498364.1:n.*1986_*1988delinsGAG
ENST00000652096.1:c.*2019_*2021delinsGAG	ENSP00000498896.1:n.*2019_*2021delinsGAG
ENST00000366578.5:c.2614_2616delinsGAG	ENSP00000355537.4:p.Pro872Glu
ENST00000461367.1:n.823_825delinsGAG
ENST00000542672.5:c.2614_2616delinsGAG	ENSP00000443495.1:p.Pro872Glu
ENST00000546208.5:c.1990_1992delinsGAG	ENSP00000438384.2:p.Pro664Glu
NM_001103.3:c.2614_2616delinsGAG	NP_001094.1:p.Pro872Glu
NM_001278343.1:c.2614_2616delinsGAG	NP_001265272.1:p.Pro872Glu
NM_001278344.1:c.1990_1992delinsGAG	NP_001265273.1:p.Pro664Glu
NM_001278343.2:c.2614_2616delinsGAG	NP_001265272.1:p.Pro872Glu
NM_001103.4:c.2614_2616delinsGAG MANE Select	NP_001094.1:p.Pro872Glu
NM_001278344.2:c.1990_1992delinsGAG	NP_001265273.1:p.Pro664Glu