Canonical Allele Identifier: CA2689242580

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2115882-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115884dup , CM000671.2:g.2115884dup	GRCh38
NC_000009.11:g.2115884dup , CM000671.1:g.2115884dup	GRCh37
NC_000009.10:g.2105884dup	NCBI36
NG_032162.1:g.105543dup
NG_032162.2:g.140595dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3159dup	ENSP00000515861.1:p.Leu1054AlafsTer?
ENST00000704352.1:c.1174-45802dup	ENSP00000515863.1:n.1174-45802dup
ENST00000704353.1:c.1174-45802dup	ENSP00000515864.1:n.1174-45802dup
ENST00000704354.1:c.3503dup
ENST00000704355.1:c.1883dup
ENST00000349721.8:c.3519dup MANE Select	ENSP00000265773.5:p.Leu1174AlafsTer?
ENST00000357248.8:c.3519dup	ENSP00000349788.2:p.Leu1174AlafsTer?
ENST00000635739.1:n.2187dup
ENST00000636157.1:n.1126dup
ENST00000638139.1:n.553dup
ENST00000349721.7:c.3519dup	ENSP00000265773.5:p.Leu1174AlafsTer?
ENST00000357248.7:c.3519dup	ENSP00000349788.2:p.Leu1174AlafsTer?
ENST00000382194.6:c.3519dup	ENSP00000371629.1:p.Leu1174AlafsTer?
ENST00000382203.5:c.3519dup	ENSP00000371638.1:p.Leu1174AlafsTer?
ENST00000450198.6:c.3345dup	ENSP00000392081.2:p.Leu1116AlafsTer?
ENST00000634760.1:c.3519dup	ENSP00000489256.1:p.Leu1174AlafsTer?
ENST00000634772.1:c.62-3574dup
ENST00000634925.1:n.1010dup
NM_001289396.1:c.3519dup	NP_001276325.1:p.Leu1174AlafsTer?
NM_001289397.1:c.3345dup	NP_001276326.1:p.Leu1116AlafsTer?
NM_003070.4:c.3519dup	NP_003061.3:p.Leu1174AlafsTer?
NM_139045.3:c.3519dup	NP_620614.2:p.Leu1174AlafsTer?
NM_003070.5:c.3519dup MANE Select	NP_003061.3:p.Leu1174AlafsTer?
NM_001289397.2:c.3345dup	NP_001276326.1:p.Leu1116AlafsTer?
NM_139045.4:c.3519dup	NP_620614.2:p.Leu1174AlafsTer?