Canonical Allele Identifier: CA1013665138

Gene: ACTN2

Linked Data

• dbSNP Id: rs148159045
• gnomAD v3: 1-236762713-T-TGA
• gnomAD v4: 1-236762713-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762725_236762726dup , CM000663.2:g.236762725_236762726dup	GRCh38
NC_000001.10:g.236926025_236926026dup , CM000663.1:g.236926025_236926026dup	GRCh37
NC_000001.9:g.234992648_234992649dup	NCBI36
NG_009081.1:g.81256_81257dup
NG_009081.2:g.103585_103586dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*106_*107dup	ENSP00000443495.1:n.*106_*107dup
ENST00000461367.2:n.1087_1088dup
ENST00000492634.7:n.2721_2722dup
ENST00000682015.1:c.*106_*107dup	ENSP00000506961.1:n.*106_*107dup
ENST00000682490.1:n.709_710dup
ENST00000682692.1:n.3886_3887dup
ENST00000682966.1:n.8432_8433dup
ENST00000683111.1:c.*2077_*2078dup	ENSP00000507913.1:n.*2077_*2078dup
ENST00000683322.1:n.4143_4144dup
ENST00000683805.1:n.1582_1583dup
ENST00000684050.1:n.5429_5430dup
ENST00000684122.1:n.2225_2226dup
ENST00000684286.1:n.4346_4347dup
ENST00000684502.1:n.4088_4089dup
ENST00000684763.1:n.1406_1407dup
ENST00000366578.6:c.*106_*107dup MANE Select	ENSP00000355537.4:n.*106_*107dup
ENST00000492634.6:n.2721_2722dup
ENST00000542672.6:c.*106_*107dup	ENSP00000443495.1:n.*106_*107dup
ENST00000651275.1:c.2683_2684dup	ENSP00000498926.1:n.2683_2684dup
ENST00000651781.1:c.1871_1872dup
ENST00000652096.1:c.*2196_*2197dup	ENSP00000498896.1:n.*2196_*2197dup
ENST00000366578.5:c.*106_*107dup	ENSP00000355537.4:n.*106_*107dup
ENST00000542672.5:c.*106_*107dup	ENSP00000443495.1:n.*106_*107dup
ENST00000546208.5:c.*106_*107dup	ENSP00000438384.2:n.*106_*107dup
NM_001103.3:c.*106_*107dup	NP_001094.1:n.*106_*107dup
NM_001278343.1:c.*106_*107dup	NP_001265272.1:n.*106_*107dup
NM_001278344.1:c.*106_*107dup	NP_001265273.1:n.*106_*107dup
NM_001278343.2:c.*106_*107dup	NP_001265272.1:n.*106_*107dup
NM_001103.4:c.*106_*107dup MANE Select	NP_001094.1:n.*106_*107dup
NM_001278344.2:c.*106_*107dup	NP_001265273.1:n.*106_*107dup