Canonical Allele Identifier: CA2651182853

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762682-T-TTGTTTGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762683_236762684insGTTTGTAT , CM000663.2:g.236762683_236762684insGTTTGTAT	GRCh38
NC_000001.10:g.236925983_236925984insGTTTGTAT , CM000663.1:g.236925983_236925984insGTTTGTAT	GRCh37
NC_000001.9:g.234992606_234992607insGTTTGTAT	NCBI36
NG_009081.1:g.81214_81215insGTTTGTAT
NG_009081.2:g.103543_103544insGTTTGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*64_*65insGTTTGTAT	ENSP00000443495.1:n.*64_*65insGTTTGTAT
ENST00000461367.2:n.1045_1046insGTTTGTAT
ENST00000492634.7:n.2679_2680insGTTTGTAT
ENST00000682015.1:c.*64_*65insGTTTGTAT	ENSP00000506961.1:n.*64_*65insGTTTGTAT
ENST00000682490.1:n.667_668insGTTTGTAT
ENST00000682692.1:n.3844_3845insGTTTGTAT
ENST00000682966.1:n.8390_8391insGTTTGTAT
ENST00000683111.1:c.*2035_*2036insGTTTGTAT	ENSP00000507913.1:n.*2035_*2036insGTTTGTAT
ENST00000683322.1:n.4101_4102insGTTTGTAT
ENST00000683805.1:n.1540_1541insGTTTGTAT
ENST00000684050.1:n.5387_5388insGTTTGTAT
ENST00000684122.1:n.2183_2184insGTTTGTAT
ENST00000684286.1:n.4304_4305insGTTTGTAT
ENST00000684502.1:n.4046_4047insGTTTGTAT
ENST00000684763.1:n.1364_1365insGTTTGTAT
ENST00000366578.6:c.*64_*65insGTTTGTAT MANE Select	ENSP00000355537.4:n.*64_*65insGTTTGTAT
ENST00000492634.6:n.2679_2680insGTTTGTAT
ENST00000542672.6:c.*64_*65insGTTTGTAT	ENSP00000443495.1:n.*64_*65insGTTTGTAT
ENST00000651275.1:c.2641_2642insGTTTGTAT	ENSP00000498926.1:n.2641_2642insGTTTGTAT
ENST00000651781.1:c.1829_1830insGTTTGTAT
ENST00000651786.1:c.*2121_*2122insGTTTGTAT	ENSP00000498364.1:n.*2121_*2122insGTTTGTAT
ENST00000652096.1:c.*2154_*2155insGTTTGTAT	ENSP00000498896.1:n.*2154_*2155insGTTTGTAT
ENST00000366578.5:c.*64_*65insGTTTGTAT	ENSP00000355537.4:n.*64_*65insGTTTGTAT
ENST00000542672.5:c.*64_*65insGTTTGTAT	ENSP00000443495.1:n.*64_*65insGTTTGTAT
ENST00000546208.5:c.*64_*65insGTTTGTAT	ENSP00000438384.2:n.*64_*65insGTTTGTAT
NM_001103.3:c.*64_*65insGTTTGTAT	NP_001094.1:n.*64_*65insGTTTGTAT
NM_001278343.1:c.*64_*65insGTTTGTAT	NP_001265272.1:n.*64_*65insGTTTGTAT
NM_001278344.1:c.*64_*65insGTTTGTAT	NP_001265273.1:n.*64_*65insGTTTGTAT
NM_001278343.2:c.*64_*65insGTTTGTAT	NP_001265272.1:n.*64_*65insGTTTGTAT
NM_001103.4:c.*64_*65insGTTTGTAT MANE Select	NP_001094.1:n.*64_*65insGTTTGTAT
NM_001278344.2:c.*64_*65insGTTTGTAT	NP_001265273.1:n.*64_*65insGTTTGTAT