Canonical Allele Identifier: CA372788952

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 1206691
• ClinVar RCV Id: RCV001574422 ; RCV002276808
• dbSNP Id: rs281875189
• MyVariant Identifiers: chr9:g.2115967C>A (hg19) ; chr9:g.2115967C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115967C>A , CM000671.2:g.2115967C>A	GRCh38
NC_000009.11:g.2115967C>A , CM000671.1:g.2115967C>A	GRCh37
NC_000009.10:g.2105967C>A	NCBI36
NG_032162.1:g.105626C>A
NG_032162.2:g.140678C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3242C>A	ENSP00000515861.1:p.Ala1081Glu
ENST00000704352.1:c.1174-45719C>A	ENSP00000515863.1:n.1174-45719C>A
ENST00000704353.1:c.1174-45719C>A	ENSP00000515864.1:n.1174-45719C>A
ENST00000704354.1:c.3586C>A
ENST00000704355.1:c.1966C>A
ENST00000349721.8:c.3602C>A MANE Select	ENSP00000265773.5:p.Ala1201Glu
ENST00000357248.8:c.3602C>A	ENSP00000349788.2:p.Ala1201Glu
ENST00000635739.1:n.2270C>A
ENST00000636157.1:n.1209C>A
ENST00000638139.1:n.636C>A
ENST00000349721.7:c.3602C>A	ENSP00000265773.5:p.Ala1201Glu
ENST00000357248.7:c.3602C>A	ENSP00000349788.2:p.Ala1201Glu
ENST00000382194.6:c.3602C>A	ENSP00000371629.1:p.Ala1201Glu
ENST00000382203.5:c.3602C>A	ENSP00000371638.1:p.Ala1201Glu
ENST00000450198.6:c.3428C>A	ENSP00000392081.2:p.Ala1143Glu
ENST00000634760.1:c.3602C>A	ENSP00000489256.1:p.Ala1201Glu
ENST00000634772.1:c.62-3491C>A
ENST00000634925.1:n.1093C>A
NM_001289396.1:c.3602C>A	NP_001276325.1:p.Ala1201Glu
NM_001289397.1:c.3428C>A	NP_001276326.1:p.Ala1143Glu
NM_003070.4:c.3602C>A	NP_003061.3:p.Ala1201Glu
NM_139045.3:c.3602C>A	NP_620614.2:p.Ala1201Glu
NM_003070.5:c.3602C>A MANE Select	NP_003061.3:p.Ala1201Glu
NM_001289397.2:c.3428C>A	NP_001276326.1:p.Ala1143Glu
NM_139045.4:c.3602C>A	NP_620614.2:p.Ala1201Glu