Canonical Allele Identifier: CA2573132805

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1474127
• ClinVar RCV Id: RCV002005433
• dbSNP Id: rs2102894768

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718900_236718924del , CM000663.2:g.236718900_236718924del	GRCh38
NC_000001.10:g.236882200_236882224del , CM000663.1:g.236882200_236882224del	GRCh37
NC_000001.9:g.234948823_234948847del	NCBI36
NG_009081.1:g.37431_37455del
NG_009081.2:g.59760_59784del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.248_272del
ENST00000492634.7:n.343_367del
ENST00000682015.1:c.248_272del
ENST00000682692.1:n.248_272del
ENST00000682966.1:n.247_271del
ENST00000683075.1:n.187_211del
ENST00000683111.1:c.191_215del
ENST00000684050.1:n.283_307del
ENST00000684286.1:n.316_340del
ENST00000684502.1:n.283_307del
ENST00000366578.6:c.248_272del
ENST00000492634.6:n.343_367del
ENST00000542672.6:c.248_272del
ENST00000651091.1:c.191_215del
ENST00000651187.1:c.32_56del
ENST00000651275.1:c.233_257del
ENST00000651786.1:c.248_272del
ENST00000652096.1:c.248_272del
ENST00000366578.5:c.248_272del
ENST00000492634.5:n.395_419del
ENST00000542672.5:c.248_272del
ENST00000546208.5:c.-574_-550del
NM_001103.3:c.248_272del
NM_001278343.1:c.248_272del
NM_001278344.1:c.-574_-550del
NM_001278343.2:c.248_272del
NM_001103.4:c.248_272del
NM_001278344.2:c.-574_-550del