Canonical Allele Identifier: CA2651182052

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236757416-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757416_236757417insC , CM000663.2:g.236757416_236757417insC	GRCh38
NC_000001.10:g.236920716_236920717insC , CM000663.1:g.236920716_236920717insC	GRCh37
NC_000001.9:g.234987339_234987340insC	NCBI36
NG_009081.1:g.75947_75948insC
NG_009081.2:g.98276_98277insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2155-70_2155-69insC	ENSP00000443495.1:n.2155-70_2155-69insC
ENST00000461367.2:n.451-70_451-69insC
ENST00000492634.7:n.2085-70_2085-69insC
ENST00000682015.1:c.2062-70_2062-69insC	ENSP00000506961.1:n.2062-70_2062-69insC
ENST00000682490.1:n.73-70_73-69insC
ENST00000682692.1:n.3250-70_3250-69insC
ENST00000682966.1:n.7796-70_7796-69insC
ENST00000683111.1:c.*1441-70_*1441-69insC	ENSP00000507913.1:n.*1441-70_*1441-69insC...
ENST00000683322.1:n.3507-70_3507-69insC
ENST00000683805.1:n.946-70_946-69insC
ENST00000684050.1:n.4793-70_4793-69insC
ENST00000684122.1:n.302-70_302-69insC
ENST00000684286.1:n.3710-70_3710-69insC
ENST00000684502.1:n.3452-70_3452-69insC
ENST00000684763.1:n.770-70_770-69insC
ENST00000366578.6:c.2155-70_2155-69insC MANE Select	ENSP00000355537.4:n.2155-70_2155-69insC
ENST00000492634.6:n.2085-70_2085-69insC
ENST00000542672.6:c.2155-70_2155-69insC	ENSP00000443495.1:n.2155-70_2155-69insC
ENST00000651091.1:c.1845-70_1845-69insC	ENSP00000498677.1:n.1845-70_1845-69insC
ENST00000651275.1:c.2047-70_2047-69insC	ENSP00000498926.1:n.2047-70_2047-69insC
ENST00000651781.1:c.1235-70_1235-69insC
ENST00000651786.1:c.*1527-70_*1527-69insC	ENSP00000498364.1:n.*1527-70_*1527-69insC...
ENST00000652096.1:c.*1560-70_*1560-69insC	ENSP00000498896.1:n.*1560-70_*1560-69insC...
ENST00000366578.5:c.2155-70_2155-69insC	ENSP00000355537.4:n.2155-70_2155-69insC
ENST00000461367.1:n.364-70_364-69insC
ENST00000542672.5:c.2155-70_2155-69insC	ENSP00000443495.1:n.2155-70_2155-69insC
ENST00000546208.5:c.1531-70_1531-69insC	ENSP00000438384.2:n.1531-70_1531-69insC
NM_001103.3:c.2155-70_2155-69insC	NP_001094.1:n.2155-70_2155-69insC
NM_001278343.1:c.2155-70_2155-69insC	NP_001265272.1:n.2155-70_2155-69insC
NM_001278344.1:c.1531-70_1531-69insC	NP_001265273.1:n.1531-70_1531-69insC
NM_001278343.2:c.2155-70_2155-69insC	NP_001265272.1:n.2155-70_2155-69insC
NM_001103.4:c.2155-70_2155-69insC MANE Select	NP_001094.1:n.2155-70_2155-69insC
NM_001278344.2:c.1531-70_1531-69insC	NP_001265273.1:n.1531-70_1531-69insC