Canonical Allele Identifier: CA16605815
Gene: SMARCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 390604
ClinVar RCV Id: RCV000442641
dbSNP Id: rs1057523836
MyVariant Identifiers: chr9:g.2110347G>A (hg19) chr9:g.2110347G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.2110347G>A , CM000671.2:g.2110347G>A GRCh38
NC_000009.11:g.2110347G>A , CM000671.1:g.2110347G>A GRCh37
NC_000009.10:g.2100347G>A NCBI36
NG_032162.1:g.100006G>A
NG_032162.2:g.135058G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000637134.2:c.3386G>A ENSP00000489667.2:p.Gly1129Asp
ENST00000704350.1:c.3026G>A ENSP00000515861.1:p.Gly1009Asp
ENST00000704352.1:c.1174-51339G>A ENSP00000515863.1:n.1174-51339G>A
ENST00000704353.1:c.1174-51339G>A ENSP00000515864.1:n.1174-51339G>A
ENST00000704354.1:c.3370G>A
ENST00000704355.1:c.1750G>A
ENST00000349721.8:c.3386G>A MANE Select ENSP00000265773.5:p.Gly1129Asp
ENST00000357248.8:c.3386G>A ENSP00000349788.2:p.Gly1129Asp
ENST00000635739.1:n.2054G>A
ENST00000636157.1:n.993G>A
ENST00000638139.1:n.420G>A
ENST00000349721.7:c.3386G>A ENSP00000265773.5:p.Gly1129Asp
ENST00000357248.7:c.3386G>A ENSP00000349788.2:p.Gly1129Asp
ENST00000382194.6:c.3386G>A ENSP00000371629.1:p.Gly1129Asp
ENST00000382203.5:c.3386G>A ENSP00000371638.1:p.Gly1129Asp
ENST00000450198.6:c.3212G>A ENSP00000392081.2:p.Gly1071Asp
ENST00000634271.1:n.559G>A
ENST00000634760.1:c.3386G>A ENSP00000489256.1:p.Gly1129Asp
ENST00000634925.1:n.877G>A
NM_001289396.1:c.3386G>A NP_001276325.1:p.Gly1129Asp
NM_001289397.1:c.3212G>A NP_001276326.1:p.Gly1071Asp
NM_003070.4:c.3386G>A NP_003061.3:p.Gly1129Asp
NM_139045.3:c.3386G>A NP_620614.2:p.Gly1129Asp
NM_003070.5:c.3386G>A MANE Select NP_003061.3:p.Gly1129Asp
NM_001289397.2:c.3212G>A NP_001276326.1:p.Gly1071Asp
NM_139045.4:c.3386G>A NP_620614.2:p.Gly1129Asp
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