Canonical Allele Identifier: CA2651182757

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236755199-G-GTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755200_236755202dup , CM000663.2:g.236755200_236755202dup	GRCh38
NC_000001.10:g.236918500_236918502dup , CM000663.1:g.236918500_236918502dup	GRCh37
NC_000001.9:g.234985123_234985125dup	NCBI36
NG_009081.1:g.73731_73733dup
NG_009081.2:g.96060_96062dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2154+2_2154+4dup	ENSP00000443495.1:n.2154+2_2154+4dup
ENST00000461367.2:n.450+2_450+4dup
ENST00000492634.7:n.2084+2_2084+4dup
ENST00000682015.1:c.2061+2_2061+4dup	ENSP00000506961.1:n.2061+2_2061+4dup
ENST00000682692.1:n.3249+2_3249+4dup
ENST00000682966.1:n.7795+2_7795+4dup
ENST00000683111.1:c.*1440+2_*1440+4dup	ENSP00000507913.1:n.*1440+2_*1440+4dup
ENST00000683322.1:n.3506+2_3506+4dup
ENST00000683805.1:n.945+2_945+4dup
ENST00000684050.1:n.4792+2_4792+4dup
ENST00000684122.1:n.301+2_301+4dup
ENST00000684286.1:n.3709+2_3709+4dup
ENST00000684502.1:n.3451+2_3451+4dup
ENST00000684763.1:n.769+2_769+4dup
ENST00000366578.6:c.2154+2_2154+4dup MANE Select	ENSP00000355537.4:n.2154+2_2154+4dup
ENST00000492634.6:n.2084+2_2084+4dup
ENST00000542672.6:c.2154+2_2154+4dup	ENSP00000443495.1:n.2154+2_2154+4dup
ENST00000651091.1:c.1844+2_1844+4dup	ENSP00000498677.1:n.1844+2_1844+4dup
ENST00000651275.1:c.2046+2_2046+4dup	ENSP00000498926.1:n.2046+2_2046+4dup
ENST00000651781.1:c.1234+2_1234+4dup
ENST00000651786.1:c.*1526+2_*1526+4dup	ENSP00000498364.1:n.*1526+2_*1526+4dup
ENST00000652096.1:c.*1559+2_*1559+4dup	ENSP00000498896.1:n.*1559+2_*1559+4dup
ENST00000366578.5:c.2154+2_2154+4dup	ENSP00000355537.4:n.2154+2_2154+4dup
ENST00000461367.1:n.363+2_363+4dup
ENST00000542672.5:c.2154+2_2154+4dup	ENSP00000443495.1:n.2154+2_2154+4dup
ENST00000546208.5:c.1530+2_1530+4dup	ENSP00000438384.2:n.1530+2_1530+4dup
NM_001103.3:c.2154+2_2154+4dup	NP_001094.1:n.2154+2_2154+4dup
NM_001278343.1:c.2154+2_2154+4dup	NP_001265272.1:n.2154+2_2154+4dup
NM_001278344.1:c.1530+2_1530+4dup	NP_001265273.1:n.1530+2_1530+4dup
NM_001278343.2:c.2154+2_2154+4dup	NP_001265272.1:n.2154+2_2154+4dup
NM_001103.4:c.2154+2_2154+4dup MANE Select	NP_001094.1:n.2154+2_2154+4dup
NM_001278344.2:c.1530+2_1530+4dup	NP_001265273.1:n.1530+2_1530+4dup