Canonical Allele Identifier: CA2651182860

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762687-G-GAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762687_236762688insAAA , CM000663.2:g.236762687_236762688insAAA	GRCh38
NC_000001.10:g.236925987_236925988insAAA , CM000663.1:g.236925987_236925988insAAA	GRCh37
NC_000001.9:g.234992610_234992611insAAA	NCBI36
NG_009081.1:g.81218_81219insAAA
NG_009081.2:g.103547_103548insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*68_*69insAAA	ENSP00000443495.1:n.*68_*69insAAA
ENST00000461367.2:n.1049_1050insAAA
ENST00000492634.7:n.2683_2684insAAA
ENST00000682015.1:c.*68_*69insAAA	ENSP00000506961.1:n.*68_*69insAAA
ENST00000682490.1:n.671_672insAAA
ENST00000682692.1:n.3848_3849insAAA
ENST00000682966.1:n.8394_8395insAAA
ENST00000683111.1:c.*2039_*2040insAAA	ENSP00000507913.1:n.*2039_*2040insAAA
ENST00000683322.1:n.4105_4106insAAA
ENST00000683805.1:n.1544_1545insAAA
ENST00000684050.1:n.5391_5392insAAA
ENST00000684122.1:n.2187_2188insAAA
ENST00000684286.1:n.4308_4309insAAA
ENST00000684502.1:n.4050_4051insAAA
ENST00000684763.1:n.1368_1369insAAA
ENST00000366578.6:c.*68_*69insAAA MANE Select	ENSP00000355537.4:n.*68_*69insAAA
ENST00000492634.6:n.2683_2684insAAA
ENST00000542672.6:c.*68_*69insAAA	ENSP00000443495.1:n.*68_*69insAAA
ENST00000651275.1:c.2645_2646insAAA	ENSP00000498926.1:n.2645_2646insAAA
ENST00000651781.1:c.1833_1834insAAA
ENST00000651786.1:c.*2125_*2126insAAA	ENSP00000498364.1:n.*2125_*2126insAAA
ENST00000652096.1:c.*2158_*2159insAAA	ENSP00000498896.1:n.*2158_*2159insAAA
ENST00000366578.5:c.*68_*69insAAA	ENSP00000355537.4:n.*68_*69insAAA
ENST00000542672.5:c.*68_*69insAAA	ENSP00000443495.1:n.*68_*69insAAA
ENST00000546208.5:c.*68_*69insAAA	ENSP00000438384.2:n.*68_*69insAAA
NM_001103.3:c.*68_*69insAAA	NP_001094.1:n.*68_*69insAAA
NM_001278343.1:c.*68_*69insAAA	NP_001265272.1:n.*68_*69insAAA
NM_001278344.1:c.*68_*69insAAA	NP_001265273.1:n.*68_*69insAAA
NM_001278343.2:c.*68_*69insAAA	NP_001265272.1:n.*68_*69insAAA
NM_001103.4:c.*68_*69insAAA MANE Select	NP_001094.1:n.*68_*69insAAA
NM_001278344.2:c.*68_*69insAAA	NP_001265273.1:n.*68_*69insAAA