Canonical Allele Identifier: CA372788607

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 2412962
• ClinVar RCV Id: RCV003109977
• COSMIC: COSM1461742 ; COSM1461743
• MyVariant Identifiers: chr9:g.2115831G>A (hg19) ; chr9:g.2115831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115831G>A , CM000671.2:g.2115831G>A	GRCh38
NC_000009.11:g.2115831G>A , CM000671.1:g.2115831G>A	GRCh37
NC_000009.10:g.2105831G>A	NCBI36
NG_032162.1:g.105490G>A
NG_032162.2:g.140542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3106G>A	ENSP00000515861.1:p.Ala1036Thr
ENST00000704352.1:c.1174-45855G>A	ENSP00000515863.1:n.1174-45855G>A
ENST00000704353.1:c.1174-45855G>A	ENSP00000515864.1:n.1174-45855G>A
ENST00000704354.1:c.3450G>A
ENST00000704355.1:c.1830G>A
ENST00000349721.8:c.3466G>A MANE Select	ENSP00000265773.5:p.Ala1156Thr
ENST00000357248.8:c.3466G>A	ENSP00000349788.2:p.Ala1156Thr
ENST00000635739.1:n.2134G>A
ENST00000636157.1:n.1073G>A
ENST00000638139.1:n.500G>A
ENST00000349721.7:c.3466G>A	ENSP00000265773.5:p.Ala1156Thr
ENST00000357248.7:c.3466G>A	ENSP00000349788.2:p.Ala1156Thr
ENST00000382194.6:c.3466G>A	ENSP00000371629.1:p.Ala1156Thr
ENST00000382203.5:c.3466G>A	ENSP00000371638.1:p.Ala1156Thr
ENST00000450198.6:c.3292G>A	ENSP00000392081.2:p.Ala1098Thr
ENST00000634760.1:c.3466G>A	ENSP00000489256.1:p.Ala1156Thr
ENST00000634772.1:c.62-3627G>A
ENST00000634925.1:n.957G>A
NM_001289396.1:c.3466G>A	NP_001276325.1:p.Ala1156Thr
NM_001289397.1:c.3292G>A	NP_001276326.1:p.Ala1098Thr
NM_003070.4:c.3466G>A	NP_003061.3:p.Ala1156Thr
NM_139045.3:c.3466G>A	NP_620614.2:p.Ala1156Thr
NM_003070.5:c.3466G>A MANE Select	NP_003061.3:p.Ala1156Thr
NM_001289397.2:c.3292G>A	NP_001276326.1:p.Ala1098Thr
NM_139045.4:c.3466G>A	NP_620614.2:p.Ala1156Thr