Canonical Allele Identifier: CA733243059

Gene: ACTN2

Linked Data

• dbSNP Id: rs1212704116
• gnomAD v3: 1-236719136-GCTCT-G
• gnomAD v4: 1-236719136-GCTCT-G
• MyVariant Identifiers: chr1:g.236882437_236882440del (hg19) ; chr1:g.236719137_236719140del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719141_236719144del , CM000663.2:g.236719141_236719144del	GRCh38
NC_000001.10:g.236882441_236882444del , CM000663.1:g.236882441_236882444del	GRCh37
NC_000001.9:g.234949064_234949067del	NCBI36
NG_009081.1:g.37672_37675del
NG_009081.2:g.60001_60004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.361+128_361+131del	ENSP00000443495.1:n.361+128_361+131del
ENST00000492634.7:n.456+128_456+131del
ENST00000494762.2:n.110+128_110+131del
ENST00000682015.1:c.361+128_361+131del	ENSP00000506961.1:n.361+128_361+131del
ENST00000682692.1:n.361+128_361+131del
ENST00000682966.1:n.360+128_360+131del
ENST00000683075.1:n.300+128_300+131del
ENST00000683111.1:c.304+128_304+131del	ENSP00000507913.1:n.304+128_304+131del
ENST00000684050.1:n.396+128_396+131del
ENST00000684286.1:n.429+128_429+131del
ENST00000684502.1:n.396+128_396+131del
ENST00000366578.6:c.361+128_361+131del MANE Select	ENSP00000355537.4:n.361+128_361+131del
ENST00000492634.6:n.456+128_456+131del
ENST00000542672.6:c.361+128_361+131del	ENSP00000443495.1:n.361+128_361+131del
ENST00000651091.1:c.304+128_304+131del	ENSP00000498677.1:n.304+128_304+131del
ENST00000651187.1:c.145+128_145+131del	ENSP00000498348.1:n.145+128_145+131del
ENST00000651275.1:c.346+128_346+131del	ENSP00000498926.1:n.346+128_346+131del
ENST00000651786.1:c.361+128_361+131del	ENSP00000498364.1:n.361+128_361+131del
ENST00000652096.1:c.361+128_361+131del	ENSP00000498896.1:n.361+128_361+131del
ENST00000366578.5:c.361+128_361+131del	ENSP00000355537.4:n.361+128_361+131del
ENST00000492634.5:n.508+128_508+131del
ENST00000542672.5:c.361+128_361+131del	ENSP00000443495.1:n.361+128_361+131del
ENST00000546208.5:c.-461+128_-461+131del	ENSP00000438384.2:n.-461+128_-461+131del
NM_001103.3:c.361+128_361+131del	NP_001094.1:n.361+128_361+131del
NM_001278343.1:c.361+128_361+131del	NP_001265272.1:n.361+128_361+131del
NM_001278344.1:c.-461+128_-461+131del	NP_001265273.1:n.-461+128_-461+131del
NM_001278343.2:c.361+128_361+131del	NP_001265272.1:n.361+128_361+131del
NM_001103.4:c.361+128_361+131del MANE Select	NP_001094.1:n.361+128_361+131del
NM_001278344.2:c.-461+128_-461+131del	NP_001265273.1:n.-461+128_-461+131del