Canonical Allele Identifier: CA2487050301

Gene: ACTN2

Linked Data

• dbSNP Id: rs1558249001

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754994_236754995dup , CM000663.2:g.236754994_236754995dup	GRCh38
NC_000001.10:g.236918294_236918295dup , CM000663.1:g.236918294_236918295dup	GRCh37
NC_000001.9:g.234984917_234984918dup	NCBI36
NG_009081.1:g.73525_73526dup
NG_009081.2:g.95854_95855dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1975-25_1975-24dup	ENSP00000443495.1:n.1975-25_1975-24dup
ENST00000461367.2:n.271-25_271-24dup
ENST00000492634.7:n.1905-25_1905-24dup
ENST00000682015.1:c.1882-25_1882-24dup	ENSP00000506961.1:n.1882-25_1882-24dup
ENST00000682692.1:n.3070-25_3070-24dup
ENST00000682966.1:n.7616-25_7616-24dup
ENST00000683111.1:c.*1261-25_*1261-24dup	ENSP00000507913.1:n.*1261-25_*1261-24dup
ENST00000683322.1:n.3327-25_3327-24dup
ENST00000683805.1:n.741_742dup
ENST00000684050.1:n.4613-25_4613-24dup
ENST00000684122.1:n.97_98dup
ENST00000684286.1:n.3530-25_3530-24dup
ENST00000684502.1:n.3272-25_3272-24dup
ENST00000684763.1:n.590-25_590-24dup
ENST00000366578.6:c.1975-25_1975-24dup MANE Select	ENSP00000355537.4:n.1975-25_1975-24dup
ENST00000492634.6:n.1905-25_1905-24dup
ENST00000542672.6:c.1975-25_1975-24dup	ENSP00000443495.1:n.1975-25_1975-24dup
ENST00000651091.1:c.1665-25_1665-24dup	ENSP00000498677.1:n.1665-25_1665-24dup
ENST00000651275.1:c.1867-25_1867-24dup	ENSP00000498926.1:n.1867-25_1867-24dup
ENST00000651781.1:c.1055-25_1055-24dup
ENST00000651786.1:c.*1347-25_*1347-24dup	ENSP00000498364.1:n.*1347-25_*1347-24dup
ENST00000652096.1:c.*1380-25_*1380-24dup	ENSP00000498896.1:n.*1380-25_*1380-24dup
ENST00000366578.5:c.1975-25_1975-24dup	ENSP00000355537.4:n.1975-25_1975-24dup
ENST00000461367.1:n.184-25_184-24dup
ENST00000542672.5:c.1975-25_1975-24dup	ENSP00000443495.1:n.1975-25_1975-24dup
ENST00000546208.5:c.1351-25_1351-24dup	ENSP00000438384.2:n.1351-25_1351-24dup
NM_001103.3:c.1975-25_1975-24dup	NP_001094.1:n.1975-25_1975-24dup
NM_001278343.1:c.1975-25_1975-24dup	NP_001265272.1:n.1975-25_1975-24dup
NM_001278344.1:c.1351-25_1351-24dup	NP_001265273.1:n.1351-25_1351-24dup
NM_001278343.2:c.1975-25_1975-24dup	NP_001265272.1:n.1975-25_1975-24dup
NM_001103.4:c.1975-25_1975-24dup MANE Select	NP_001094.1:n.1975-25_1975-24dup
NM_001278344.2:c.1351-25_1351-24dup	NP_001265273.1:n.1351-25_1351-24dup