Canonical Allele Identifier: CA645526673

Gene: ACTN2

Linked Data

• COSMIC: COSM5511667 ; COSM5511668

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718896del , CM000663.2:g.236718896del	GRCh38
NC_000001.10:g.236882196del , CM000663.1:g.236882196del	GRCh37
NC_000001.9:g.234948819del	NCBI36
NG_009081.1:g.37427del
NG_009081.2:g.59756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.244del
ENST00000492634.7:n.339del
ENST00000682015.1:c.244del
ENST00000682692.1:n.244del
ENST00000682966.1:n.243del
ENST00000683075.1:n.183del
ENST00000683111.1:c.187del
ENST00000684050.1:n.279del
ENST00000684286.1:n.312del
ENST00000684502.1:n.279del
ENST00000366578.6:c.244del
ENST00000492634.6:n.339del
ENST00000542672.6:c.244del
ENST00000651091.1:c.187del
ENST00000651187.1:c.28del
ENST00000651275.1:c.229del
ENST00000651786.1:c.244del
ENST00000652096.1:c.244del
ENST00000366578.5:c.244del
ENST00000492634.5:n.391del
ENST00000542672.5:c.244del
ENST00000546208.5:c.-578del
NM_001103.3:c.244del
NM_001278343.1:c.244del
NM_001278344.1:c.-578del
NM_001278343.2:c.244del
NM_001103.4:c.244del
NM_001278344.2:c.-578del