Canonical Allele Identifier: CA733216786

Gene: ACTN2

Linked Data

• dbSNP Id: rs148159045
• gnomAD v3: 1-236762713-TGAGA-T
• gnomAD v4: 1-236762713-TGAGA-T
• MyVariant Identifiers: chr1:g.236926014_236926017del (hg19) ; chr1:g.236762714_236762717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762723_236762726del , CM000663.2:g.236762723_236762726del	GRCh38
NC_000001.10:g.236926023_236926026del , CM000663.1:g.236926023_236926026del	GRCh37
NC_000001.9:g.234992646_234992649del	NCBI36
NG_009081.1:g.81254_81257del
NG_009081.2:g.103583_103586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*104_*107del	ENSP00000443495.1:n.*104_*107del
ENST00000461367.2:n.1085_1088del
ENST00000492634.7:n.2719_2722del
ENST00000682015.1:c.*104_*107del	ENSP00000506961.1:n.*104_*107del
ENST00000682490.1:n.707_710del
ENST00000682692.1:n.3884_3887del
ENST00000682966.1:n.8430_8433del
ENST00000683111.1:c.*2075_*2078del	ENSP00000507913.1:n.*2075_*2078del
ENST00000683322.1:n.4141_4144del
ENST00000683805.1:n.1580_1583del
ENST00000684050.1:n.5427_5430del
ENST00000684122.1:n.2223_2226del
ENST00000684286.1:n.4344_4347del
ENST00000684502.1:n.4086_4089del
ENST00000684763.1:n.1404_1407del
ENST00000366578.6:c.*104_*107del MANE Select	ENSP00000355537.4:n.*104_*107del
ENST00000492634.6:n.2719_2722del
ENST00000542672.6:c.*104_*107del	ENSP00000443495.1:n.*104_*107del
ENST00000651275.1:c.2681_2684del	ENSP00000498926.1:n.2681_2684del
ENST00000651781.1:c.1869_1872del
ENST00000652096.1:c.*2194_*2197del	ENSP00000498896.1:n.*2194_*2197del
ENST00000366578.5:c.*104_*107del	ENSP00000355537.4:n.*104_*107del
ENST00000542672.5:c.*104_*107del	ENSP00000443495.1:n.*104_*107del
ENST00000546208.5:c.*104_*107del	ENSP00000438384.2:n.*104_*107del
NM_001103.3:c.*104_*107del	NP_001094.1:n.*104_*107del
NM_001278343.1:c.*104_*107del	NP_001265272.1:n.*104_*107del
NM_001278344.1:c.*104_*107del	NP_001265273.1:n.*104_*107del
NM_001278343.2:c.*104_*107del	NP_001265272.1:n.*104_*107del
NM_001103.4:c.*104_*107del MANE Select	NP_001094.1:n.*104_*107del
NM_001278344.2:c.*104_*107del	NP_001265273.1:n.*104_*107del