Canonical Allele Identifier: CA2651178619

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236719145-T-TTGTGCACCGAGCGCCCTAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719145_236719146insTGTGCACCGAGCGCCCTAAG , CM000663.2:g.236719145_236719146insTGTGCACCGAGCGCCCTAAG	GRCh38
NC_000001.10:g.236882445_236882446insTGTGCACCGAGCGCCCTAAG , CM000663.1:g.236882445_236882446insTGTGCACCGAGCGCCCTAAG	GRCh37
NC_000001.9:g.234949068_234949069insTGTGCACCGAGCGCCCTAAG	NCBI36
NG_009081.1:g.37676_37677insTGTGCACCGAGCGCCCTAAG
NG_009081.2:g.60005_60006insTGTGCACCGAGCGCCCTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	ENSP00000443495.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000492634.7:n.456+132_456+133insTGTGCACCGAGCGCCCTAAG
ENST00000494762.2:n.110+132_110+133insTGTGCACCGAGCGCCCTAAG
ENST00000682015.1:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	ENSP00000506961.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000682692.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000682966.1:n.360+132_360+133insTGTGCACCGAGCGCCCTAAG
ENST00000683075.1:n.300+132_300+133insTGTGCACCGAGCGCCCTAAG
ENST00000683111.1:c.304+132_304+133insTGTGCACCGAGCGCCCTAAG	ENSP00000507913.1:n.304+132_304+133insTGTGCACCGAGCGCCCTAAG
ENST00000684050.1:n.396+132_396+133insTGTGCACCGAGCGCCCTAAG
ENST00000684286.1:n.429+132_429+133insTGTGCACCGAGCGCCCTAAG
ENST00000684502.1:n.396+132_396+133insTGTGCACCGAGCGCCCTAAG
ENST00000366578.6:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG MANE Select	ENSP00000355537.4:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000492634.6:n.456+132_456+133insTGTGCACCGAGCGCCCTAAG
ENST00000542672.6:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	ENSP00000443495.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000651091.1:c.304+132_304+133insTGTGCACCGAGCGCCCTAAG	ENSP00000498677.1:n.304+132_304+133insTGTGCACCGAGCGCCCTAAG
ENST00000651187.1:c.145+132_145+133insTGTGCACCGAGCGCCCTAAG	ENSP00000498348.1:n.145+132_145+133insTGTGCACCGAGCGCCCTAAG
ENST00000651275.1:c.346+132_346+133insTGTGCACCGAGCGCCCTAAG	ENSP00000498926.1:n.346+132_346+133insTGTGCACCGAGCGCCCTAAG
ENST00000651786.1:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	ENSP00000498364.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000652096.1:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	ENSP00000498896.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000366578.5:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	ENSP00000355537.4:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000492634.5:n.508+132_508+133insTGTGCACCGAGCGCCCTAAG
ENST00000542672.5:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	ENSP00000443495.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
ENST00000546208.5:c.-461+132_-461+133insTGTGCACCGAGCGCCCTAAG	ENSP00000438384.2:n.-461+132_-461+133insTGTGCACCGAGCGCCCTAAG
NM_001103.3:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	NP_001094.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
NM_001278343.1:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	NP_001265272.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
NM_001278344.1:c.-461+132_-461+133insTGTGCACCGAGCGCCCTAAG	NP_001265273.1:n.-461+132_-461+133insTGTGCACCGAGCGCCCTAAG
NM_001278343.2:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG	NP_001265272.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
NM_001103.4:c.361+132_361+133insTGTGCACCGAGCGCCCTAAG MANE Select	NP_001094.1:n.361+132_361+133insTGTGCACCGAGCGCCCTAAG
NM_001278344.2:c.-461+132_-461+133insTGTGCACCGAGCGCCCTAAG	NP_001265273.1:n.-461+132_-461+133insTGTGCACCGAGCGCCCTAAG