Canonical Allele Identifier: CA862096115

Gene: SMARCA2

Linked Data

• dbSNP Id: rs1452091185
• gnomAD v3: 9-2116245-G-GA
• gnomAD v4: 9-2116245-G-GA
• MyVariant Identifiers: chr9:g.2116245_2116246insA (hg19) ; chr9:g.2116245_2116246insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116246dup , CM000671.2:g.2116246dup	GRCh38
NC_000009.11:g.2116246dup , CM000671.1:g.2116246dup	GRCh37
NC_000009.10:g.2106246dup	NCBI36
NG_032162.1:g.105905dup
NG_032162.2:g.140957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3324+197dup	ENSP00000515861.1:n.3324+197dup
ENST00000704352.1:c.1174-45440dup	ENSP00000515863.1:n.1174-45440dup
ENST00000704353.1:c.1174-45440dup	ENSP00000515864.1:n.1174-45440dup
ENST00000704354.1:c.3668+197dup
ENST00000704355.1:c.2048+197dup
ENST00000349721.8:c.3684+197dup MANE Select	ENSP00000265773.5:n.3684+197dup
ENST00000357248.8:c.3684+197dup	ENSP00000349788.2:n.3684+197dup
ENST00000635739.1:n.2352+197dup
ENST00000636157.1:n.1291+197dup
ENST00000638139.1:n.718+197dup
ENST00000349721.7:c.3684+197dup	ENSP00000265773.5:n.3684+197dup
ENST00000357248.7:c.3684+197dup	ENSP00000349788.2:n.3684+197dup
ENST00000382194.6:c.3684+197dup	ENSP00000371629.1:n.3684+197dup
ENST00000382203.5:c.3684+197dup	ENSP00000371638.1:n.3684+197dup
ENST00000450198.6:c.3510+197dup	ENSP00000392081.2:n.3510+197dup
ENST00000634760.1:c.3684+197dup	ENSP00000489256.1:n.3684+197dup
ENST00000634772.1:c.62-3212dup
ENST00000634925.1:n.1175+197dup
NM_001289396.1:c.3684+197dup	NP_001276325.1:n.3684+197dup
NM_001289397.1:c.3510+197dup	NP_001276326.1:n.3510+197dup
NM_003070.4:c.3684+197dup	NP_003061.3:n.3684+197dup
NM_139045.3:c.3684+197dup	NP_620614.2:n.3684+197dup
NM_003070.5:c.3684+197dup MANE Select	NP_003061.3:n.3684+197dup
NM_001289397.2:c.3510+197dup	NP_001276326.1:n.3510+197dup
NM_139045.4:c.3684+197dup	NP_620614.2:n.3684+197dup