Canonical Allele Identifier: CA39709573

Gene: ACTN2

Linked Data

• dbSNP Id: rs887482115
• gnomAD v3: 1-236718645-AGACTCTCCC-A
• gnomAD v4: 1-236718645-AGACTCTCCC-A
• MyVariant Identifiers: chr1:g.236881946_236881954del (hg19) ; chr1:g.236718646_236718654del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236718646_236718654del , CM000663.2:g.236718646_236718654del	GRCh38
NC_000001.10:g.236881946_236881954del , CM000663.1:g.236881946_236881954del	GRCh37
NC_000001.9:g.234948569_234948577del	NCBI36
NG_009081.1:g.37177_37185del
NG_009081.2:g.59506_59514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.242-248_242-240del	ENSP00000443495.1:n.242-248_242-240del
ENST00000492634.7:n.337-248_337-240del
ENST00000682015.1:c.242-248_242-240del	ENSP00000506961.1:n.242-248_242-240del
ENST00000682692.1:n.242-248_242-240del
ENST00000682966.1:n.241-248_241-240del
ENST00000683075.1:n.181-248_181-240del
ENST00000683111.1:c.185-248_185-240del	ENSP00000507913.1:n.185-248_185-240del
ENST00000684050.1:n.277-248_277-240del
ENST00000684286.1:n.310-248_310-240del
ENST00000684502.1:n.277-248_277-240del
ENST00000366578.6:c.242-248_242-240del MANE Select	ENSP00000355537.4:n.242-248_242-240del
ENST00000492634.6:n.337-248_337-240del
ENST00000542672.6:c.242-248_242-240del	ENSP00000443495.1:n.242-248_242-240del
ENST00000651091.1:c.185-248_185-240del	ENSP00000498677.1:n.185-248_185-240del
ENST00000651187.1:c.26-248_26-240del	ENSP00000498348.1:n.26-248_26-240del
ENST00000651275.1:c.227-248_227-240del	ENSP00000498926.1:n.227-248_227-240del
ENST00000651786.1:c.242-248_242-240del	ENSP00000498364.1:n.242-248_242-240del
ENST00000652096.1:c.242-248_242-240del	ENSP00000498896.1:n.242-248_242-240del
ENST00000366578.5:c.242-248_242-240del	ENSP00000355537.4:n.242-248_242-240del
ENST00000492634.5:n.389-248_389-240del
ENST00000542672.5:c.242-248_242-240del	ENSP00000443495.1:n.242-248_242-240del
ENST00000546208.5:c.-580-248_-580-240del	ENSP00000438384.2:n.-580-248_-580-240del
NM_001103.3:c.242-248_242-240del	NP_001094.1:n.242-248_242-240del
NM_001278343.1:c.242-248_242-240del	NP_001265272.1:n.242-248_242-240del
NM_001278344.1:c.-580-248_-580-240del	NP_001265273.1:n.-580-248_-580-240del
NM_001278343.2:c.242-248_242-240del	NP_001265272.1:n.242-248_242-240del
NM_001103.4:c.242-248_242-240del MANE Select	NP_001094.1:n.242-248_242-240del
NM_001278344.2:c.-580-248_-580-240del	NP_001265273.1:n.-580-248_-580-240del