Canonical Allele Identifier: CA2689242500

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2115698-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115702dup , CM000671.2:g.2115702dup	GRCh38
NC_000009.11:g.2115702dup , CM000671.1:g.2115702dup	GRCh37
NC_000009.10:g.2105702dup	NCBI36
NG_032162.1:g.105361dup
NG_032162.2:g.140413dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3097-120dup	ENSP00000515861.1:n.3097-120dup
ENST00000704352.1:c.1174-45984dup	ENSP00000515863.1:n.1174-45984dup
ENST00000704353.1:c.1174-45984dup	ENSP00000515864.1:n.1174-45984dup
ENST00000704354.1:c.3441-120dup
ENST00000704355.1:c.1821-120dup
ENST00000349721.8:c.3457-120dup MANE Select	ENSP00000265773.5:n.3457-120dup
ENST00000357248.8:c.3457-120dup	ENSP00000349788.2:n.3457-120dup
ENST00000635739.1:n.2125-120dup
ENST00000636157.1:n.1064-120dup
ENST00000638139.1:n.491-120dup
ENST00000349721.7:c.3457-120dup	ENSP00000265773.5:n.3457-120dup
ENST00000357248.7:c.3457-120dup	ENSP00000349788.2:n.3457-120dup
ENST00000382194.6:c.3457-120dup	ENSP00000371629.1:n.3457-120dup
ENST00000382203.5:c.3457-120dup	ENSP00000371638.1:n.3457-120dup
ENST00000450198.6:c.3283-120dup	ENSP00000392081.2:n.3283-120dup
ENST00000634760.1:c.3457-120dup	ENSP00000489256.1:n.3457-120dup
ENST00000634772.1:c.62-3756dup
ENST00000634925.1:n.948-120dup
NM_001289396.1:c.3457-120dup	NP_001276325.1:n.3457-120dup
NM_001289397.1:c.3283-120dup	NP_001276326.1:n.3283-120dup
NM_003070.4:c.3457-120dup	NP_003061.3:n.3457-120dup
NM_139045.3:c.3457-120dup	NP_620614.2:n.3457-120dup
NM_003070.5:c.3457-120dup MANE Select	NP_003061.3:n.3457-120dup
NM_001289397.2:c.3283-120dup	NP_001276326.1:n.3283-120dup
NM_139045.4:c.3457-120dup	NP_620614.2:n.3457-120dup