Canonical Allele Identifier: CA463852713

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 2962084
• ClinVar RCV Id: RCV003824714
• dbSNP Id: rs753217386
• gnomAD v2: 9-2115893-C-G
• gnomAD v4: 9-2115893-C-G
• MyVariant Identifiers: chr9:g.2115893C>G (hg19) ; chr9:g.2115893C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115893C>G , CM000671.2:g.2115893C>G	GRCh38
NC_000009.11:g.2115893C>G , CM000671.1:g.2115893C>G	GRCh37
NC_000009.10:g.2105893C>G	NCBI36
NG_032162.1:g.105552C>G
NG_032162.2:g.140604C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3168C>G	ENSP00000515861.1:p.Thr1056=
ENST00000704352.1:c.1174-45793C>G	ENSP00000515863.1:n.1174-45793C>G
ENST00000704353.1:c.1174-45793C>G	ENSP00000515864.1:n.1174-45793C>G
ENST00000704354.1:c.3512C>G
ENST00000704355.1:c.1892C>G
ENST00000349721.8:c.3528C>G MANE Select	ENSP00000265773.5:p.Thr1176=
ENST00000357248.8:c.3528C>G	ENSP00000349788.2:p.Thr1176=
ENST00000635739.1:n.2196C>G
ENST00000636157.1:n.1135C>G
ENST00000638139.1:n.562C>G
ENST00000349721.7:c.3528C>G	ENSP00000265773.5:p.Thr1176=
ENST00000357248.7:c.3528C>G	ENSP00000349788.2:p.Thr1176=
ENST00000382194.6:c.3528C>G	ENSP00000371629.1:p.Thr1176=
ENST00000382203.5:c.3528C>G	ENSP00000371638.1:p.Thr1176=
ENST00000450198.6:c.3354C>G	ENSP00000392081.2:p.Thr1118=
ENST00000634760.1:c.3528C>G	ENSP00000489256.1:p.Thr1176=
ENST00000634772.1:c.62-3565C>G
ENST00000634925.1:n.1019C>G
NM_001289396.1:c.3528C>G	NP_001276325.1:p.Thr1176=
NM_001289397.1:c.3354C>G	NP_001276326.1:p.Thr1118=
NM_003070.4:c.3528C>G	NP_003061.3:p.Thr1176=
NM_139045.3:c.3528C>G	NP_620614.2:p.Thr1176=
NM_003070.5:c.3528C>G MANE Select	NP_003061.3:p.Thr1176=
NM_001289397.2:c.3354C>G	NP_001276326.1:p.Thr1118=
NM_139045.4:c.3528C>G	NP_620614.2:p.Thr1176=