Canonical Allele Identifier: CA529912367

Gene: ACTN2

Linked Data

• dbSNP Id: rs1316807446
• gnomAD v2: 1-236918336-CATCCAG-C
• gnomAD v4: 1-236755036-CATCCAG-C
• MyVariant Identifiers: chr1:g.236918337_236918342del (hg19) ; chr1:g.236755037_236755042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755040_236755045del , CM000663.2:g.236755040_236755045del	GRCh38
NC_000001.10:g.236918340_236918345del , CM000663.1:g.236918340_236918345del	GRCh37
NC_000001.9:g.234984963_234984968del	NCBI36
NG_009081.1:g.73571_73576del
NG_009081.2:g.95900_95905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1996_2001del	ENSP00000443495.1:p.Gln666_Ile667del
ENST00000461367.2:n.292_297del
ENST00000492634.7:n.1926_1931del
ENST00000682015.1:c.1903_1908del	ENSP00000506961.1:p.Gln635_Ile636del
ENST00000682692.1:n.3091_3096del
ENST00000682966.1:n.7637_7642del
ENST00000683111.1:c.*1282_*1287del	ENSP00000507913.1:n.*1282_*1287del
ENST00000683322.1:n.3348_3353del
ENST00000683805.1:n.787_792del
ENST00000684050.1:n.4634_4639del
ENST00000684122.1:n.143_148del
ENST00000684286.1:n.3551_3556del
ENST00000684502.1:n.3293_3298del
ENST00000684763.1:n.611_616del
ENST00000366578.6:c.1996_2001del MANE Select	ENSP00000355537.4:p.Gln666_Ile667del
ENST00000492634.6:n.1926_1931del
ENST00000542672.6:c.1996_2001del	ENSP00000443495.1:p.Gln666_Ile667del
ENST00000651091.1:c.1686_1691del	ENSP00000498677.1:n.1686_1691del
ENST00000651275.1:c.1888_1893del	ENSP00000498926.1:p.Gln630_Ile631del
ENST00000651781.1:c.1076_1081del
ENST00000651786.1:c.*1368_*1373del	ENSP00000498364.1:n.*1368_*1373del
ENST00000652096.1:c.*1401_*1406del	ENSP00000498896.1:n.*1401_*1406del
ENST00000366578.5:c.1996_2001del	ENSP00000355537.4:p.Gln666_Ile667del
ENST00000461367.1:n.205_210del
ENST00000542672.5:c.1996_2001del	ENSP00000443495.1:p.Gln666_Ile667del
ENST00000546208.5:c.1372_1377del	ENSP00000438384.2:p.Gln458_Ile459del
NM_001103.3:c.1996_2001del	NP_001094.1:p.Gln666_Ile667del
NM_001278343.1:c.1996_2001del	NP_001265272.1:p.Gln666_Ile667del
NM_001278344.1:c.1372_1377del	NP_001265273.1:p.Gln458_Ile459del
NM_001278343.2:c.1996_2001del	NP_001265272.1:p.Gln666_Ile667del
NM_001103.4:c.1996_2001del MANE Select	NP_001094.1:p.Gln666_Ile667del
NM_001278344.2:c.1372_1377del	NP_001265273.1:p.Gln458_Ile459del