Canonical Allele Identifier: CA2651178567

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236719057-TAGCGTAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719058_236719065del , CM000663.2:g.236719058_236719065del	GRCh38
NC_000001.10:g.236882358_236882365del , CM000663.1:g.236882358_236882365del	GRCh37
NC_000001.9:g.234948981_234948988del	NCBI36
NG_009081.1:g.37589_37596del
NG_009081.2:g.59918_59925del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.361+45_361+52del	ENSP00000443495.1:n.361+45_361+52del
ENST00000492634.7:n.456+45_456+52del
ENST00000494762.2:n.110+45_110+52del
ENST00000682015.1:c.361+45_361+52del	ENSP00000506961.1:n.361+45_361+52del
ENST00000682692.1:n.361+45_361+52del
ENST00000682966.1:n.360+45_360+52del
ENST00000683075.1:n.300+45_300+52del
ENST00000683111.1:c.304+45_304+52del	ENSP00000507913.1:n.304+45_304+52del
ENST00000684050.1:n.396+45_396+52del
ENST00000684286.1:n.429+45_429+52del
ENST00000684502.1:n.396+45_396+52del
ENST00000366578.6:c.361+45_361+52del MANE Select	ENSP00000355537.4:n.361+45_361+52del
ENST00000492634.6:n.456+45_456+52del
ENST00000542672.6:c.361+45_361+52del	ENSP00000443495.1:n.361+45_361+52del
ENST00000651091.1:c.304+45_304+52del	ENSP00000498677.1:n.304+45_304+52del
ENST00000651187.1:c.145+45_145+52del	ENSP00000498348.1:n.145+45_145+52del
ENST00000651275.1:c.346+45_346+52del	ENSP00000498926.1:n.346+45_346+52del
ENST00000651786.1:c.361+45_361+52del	ENSP00000498364.1:n.361+45_361+52del
ENST00000652096.1:c.361+45_361+52del	ENSP00000498896.1:n.361+45_361+52del
ENST00000366578.5:c.361+45_361+52del	ENSP00000355537.4:n.361+45_361+52del
ENST00000492634.5:n.508+45_508+52del
ENST00000542672.5:c.361+45_361+52del	ENSP00000443495.1:n.361+45_361+52del
ENST00000546208.5:c.-461+45_-461+52del	ENSP00000438384.2:n.-461+45_-461+52del
NM_001103.3:c.361+45_361+52del	NP_001094.1:n.361+45_361+52del
NM_001278343.1:c.361+45_361+52del	NP_001265272.1:n.361+45_361+52del
NM_001278344.1:c.-461+45_-461+52del	NP_001265273.1:n.-461+45_-461+52del
NM_001278343.2:c.361+45_361+52del	NP_001265272.1:n.361+45_361+52del
NM_001103.4:c.361+45_361+52del MANE Select	NP_001094.1:n.361+45_361+52del
NM_001278344.2:c.-461+45_-461+52del	NP_001265273.1:n.-461+45_-461+52del