Canonical Allele Identifier: CA2698358368

Gene: ACTN2

Linked Data

• dbSNP Id: rs2102954082

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762644_236762647del , CM000663.2:g.236762644_236762647del	GRCh38
NC_000001.10:g.236925944_236925947del , CM000663.1:g.236925944_236925947del	GRCh37
NC_000001.9:g.234992567_234992570del	NCBI36
NG_009081.1:g.81175_81178del
NG_009081.2:g.103504_103507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*25_*28del	ENSP00000443495.1:n.*25_*28del
ENST00000461367.2:n.1006_1009del
ENST00000492634.7:n.2640_2643del
ENST00000682015.1:c.*25_*28del	ENSP00000506961.1:n.*25_*28del
ENST00000682490.1:n.628_631del
ENST00000682692.1:n.3805_3808del
ENST00000682966.1:n.8351_8354del
ENST00000683111.1:c.*1996_*1999del	ENSP00000507913.1:n.*1996_*1999del
ENST00000683322.1:n.4062_4065del
ENST00000683805.1:n.1501_1504del
ENST00000684050.1:n.5348_5351del
ENST00000684122.1:n.2144_2147del
ENST00000684286.1:n.4265_4268del
ENST00000684502.1:n.4007_4010del
ENST00000684763.1:n.1325_1328del
ENST00000366578.6:c.*25_*28del MANE Select	ENSP00000355537.4:n.*25_*28del
ENST00000492634.6:n.2640_2643del
ENST00000542672.6:c.*25_*28del	ENSP00000443495.1:n.*25_*28del
ENST00000651275.1:c.2602_2605del	ENSP00000498926.1:n.2602_2605del
ENST00000651781.1:c.1790_1793del
ENST00000651786.1:c.*2082_*2085del	ENSP00000498364.1:n.*2082_*2085del
ENST00000652096.1:c.*2115_*2118del	ENSP00000498896.1:n.*2115_*2118del
ENST00000366578.5:c.*25_*28del	ENSP00000355537.4:n.*25_*28del
ENST00000542672.5:c.*25_*28del	ENSP00000443495.1:n.*25_*28del
ENST00000546208.5:c.*25_*28del	ENSP00000438384.2:n.*25_*28del
NM_001103.3:c.*25_*28del	NP_001094.1:n.*25_*28del
NM_001278343.1:c.*25_*28del	NP_001265272.1:n.*25_*28del
NM_001278344.1:c.*25_*28del	NP_001265273.1:n.*25_*28del
NM_001278343.2:c.*25_*28del	NP_001265272.1:n.*25_*28del
NM_001103.4:c.*25_*28del MANE Select	NP_001094.1:n.*25_*28del
NM_001278344.2:c.*25_*28del	NP_001265273.1:n.*25_*28del