Canonical Allele Identifier: CA10590098

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 267266
• ClinVar RCV Id: RCV000258017
• dbSNP Id: rs886041045
• MyVariant Identifiers: chr9:g.2086854A>G (hg19) ; chr9:g.2086854A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2086854A>G , CM000671.2:g.2086854A>G	GRCh38
NC_000009.11:g.2086854A>G , CM000671.1:g.2086854A>G	GRCh37
NC_000009.10:g.2076854A>G	NCBI36
NG_032162.1:g.76513A>G
NG_032162.2:g.111565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000637134.2:c.2552A>G	ENSP00000489667.2:p.Asp851Gly
ENST00000704350.1:c.2192A>G	ENSP00000515861.1:p.Asp731Gly
ENST00000704352.1:c.1173+32131A>G	ENSP00000515863.1:n.1173+32131A>G
ENST00000704353.1:c.1173+32131A>G	ENSP00000515864.1:n.1173+32131A>G
ENST00000704354.1:c.2536A>G
ENST00000704355.1:c.916A>G
ENST00000349721.8:c.2552A>G MANE Select	ENSP00000265773.5:p.Asp851Gly
ENST00000357248.8:c.2552A>G	ENSP00000349788.2:p.Asp851Gly
ENST00000635739.1:n.1220A>G
ENST00000636157.1:n.159A>G
ENST00000349721.7:c.2552A>G	ENSP00000265773.5:p.Asp851Gly
ENST00000357248.7:c.2552A>G	ENSP00000349788.2:p.Asp851Gly
ENST00000382194.6:c.2552A>G	ENSP00000371629.1:p.Asp851Gly
ENST00000382203.5:c.2552A>G	ENSP00000371638.1:p.Asp851Gly
ENST00000450198.6:c.2552A>G	ENSP00000392081.2:p.Asp851Gly
ENST00000634760.1:c.2552A>G	ENSP00000489256.1:p.Asp851Gly
ENST00000634925.1:n.43A>G
ENST00000635185.1:c.537-1646A>G
NM_001289396.1:c.2552A>G	NP_001276325.1:p.Asp851Gly
NM_001289397.1:c.2552A>G	NP_001276326.1:p.Asp851Gly
NM_003070.4:c.2552A>G	NP_003061.3:p.Asp851Gly
NM_139045.3:c.2552A>G	NP_620614.2:p.Asp851Gly
NM_003070.5:c.2552A>G MANE Select	NP_003061.3:p.Asp851Gly
NM_001289397.2:c.2552A>G	NP_001276326.1:p.Asp851Gly
NM_139045.4:c.2552A>G	NP_620614.2:p.Asp851Gly