Canonical Allele Identifier: CA211273

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 30015
• ClinVar RCV Id: RCV000022915 ; RCV000059677
• dbSNP Id: rs281875187
• COSMIC: COSM1659006 ; COSM1659007
• MyVariant Identifiers: chr9:g.2115841G>T (hg19) ; chr9:g.2115841G>T (hg38)
• PubMed: PMID:22366787

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115841G>T , CM000671.2:g.2115841G>T	GRCh38
NC_000009.11:g.2115841G>T , CM000671.1:g.2115841G>T	GRCh37
NC_000009.10:g.2105841G>T	NCBI36
NG_032162.1:g.105500G>T
NG_032162.2:g.140552G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3116G>T	ENSP00000515861.1:p.Arg1039Leu
ENST00000704352.1:c.1174-45845G>T	ENSP00000515863.1:n.1174-45845G>T
ENST00000704353.1:c.1174-45845G>T	ENSP00000515864.1:n.1174-45845G>T
ENST00000704354.1:c.3460G>T
ENST00000704355.1:c.1840G>T
ENST00000349721.8:c.3476G>T MANE Select	ENSP00000265773.5:p.Arg1159Leu
ENST00000357248.8:c.3476G>T	ENSP00000349788.2:p.Arg1159Leu
ENST00000635739.1:n.2144G>T
ENST00000636157.1:n.1083G>T
ENST00000638139.1:n.510G>T
ENST00000349721.7:c.3476G>T	ENSP00000265773.5:p.Arg1159Leu
ENST00000357248.7:c.3476G>T	ENSP00000349788.2:p.Arg1159Leu
ENST00000382194.6:c.3476G>T	ENSP00000371629.1:p.Arg1159Leu
ENST00000382203.5:c.3476G>T	ENSP00000371638.1:p.Arg1159Leu
ENST00000450198.6:c.3302G>T	ENSP00000392081.2:p.Arg1101Leu
ENST00000634760.1:c.3476G>T	ENSP00000489256.1:p.Arg1159Leu
ENST00000634772.1:c.62-3617G>T
ENST00000634925.1:n.967G>T
NM_001289396.1:c.3476G>T	NP_001276325.1:p.Arg1159Leu
NM_001289397.1:c.3302G>T	NP_001276326.1:p.Arg1101Leu
NM_003070.4:c.3476G>T	NP_003061.3:p.Arg1159Leu
NM_139045.3:c.3476G>T	NP_620614.2:p.Arg1159Leu
NM_003070.5:c.3476G>T MANE Select	NP_003061.3:p.Arg1159Leu
NM_001289397.2:c.3302G>T	NP_001276326.1:p.Arg1101Leu
NM_139045.4:c.3476G>T	NP_620614.2:p.Arg1159Leu