Canonical Allele Identifier: CA915942086

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 644518
• ClinVar RCV Id: RCV000798454
• dbSNP Id: rs1572139563

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747126_236747706del , CM000663.2:g.236747126_236747706del	GRCh38
NC_000001.10:g.236910426_236911006del , CM000663.1:g.236910426_236911006del	GRCh37
NC_000001.9:g.234977049_234977629del	NCBI36
NG_009081.1:g.65657_66237del
NG_009081.2:g.87986_88566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1407-541_1446del
ENST00000492634.7:n.1337-541_1376del
ENST00000682015.1:c.1314-541_1353del
ENST00000682692.1:n.1154-541_1193del
ENST00000682966.1:n.7048-541_7087del
ENST00000683111.1:c.*693-541_*732del
ENST00000683322.1:n.2759-541_2798del
ENST00000684050.1:n.4045-541_4084del
ENST00000684286.1:n.2962-541_3001del
ENST00000684502.1:n.1356-541_1395del
ENST00000366578.6:c.1407-541_1446del
ENST00000492634.6:n.1337-541_1376del
ENST00000542672.6:c.1407-541_1446del
ENST00000651091.1:c.1097-541_1136del
ENST00000651275.1:c.1299-541_1338del
ENST00000651781.1:c.487-541_526del
ENST00000651786.1:c.*779-541_*818del
ENST00000652096.1:c.*812-541_*851del
ENST00000366578.5:c.1407-541_1446del
ENST00000542672.5:c.1407-541_1446del
ENST00000546208.5:c.783-541_822del
NM_001103.3:c.1407-541_1446del
NM_001278343.1:c.1407-541_1446del
NM_001278344.1:c.783-541_822del
NM_001278343.2:c.1407-541_1446del
NM_001103.4:c.1407-541_1446del
NM_001278344.2:c.783-541_822del