Canonical Allele Identifier: CA4963785

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 1304563
• ClinVar RCV Id: RCV001752330 ; RCV003900862
• dbSNP Id: rs148467601
• ExAC: 9:2115875 G / T
• gnomAD v2: 9-2115875-G-T
• gnomAD v3: 9-2115875-G-T
• gnomAD v4: 9-2115875-G-T
• MyVariant Identifiers: chr9:g.2115875G>T (hg19) ; chr9:g.2115875G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115875G>T , CM000671.2:g.2115875G>T	GRCh38
NC_000009.11:g.2115875G>T , CM000671.1:g.2115875G>T	GRCh37
NC_000009.10:g.2105875G>T	NCBI36
NG_032162.1:g.105534G>T
NG_032162.2:g.140586G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3150G>T	ENSP00000515861.1:p.Arg1050=
ENST00000704352.1:c.1174-45811G>T	ENSP00000515863.1:n.1174-45811G>T
ENST00000704353.1:c.1174-45811G>T	ENSP00000515864.1:n.1174-45811G>T
ENST00000704354.1:c.3494G>T
ENST00000704355.1:c.1874G>T
ENST00000349721.8:c.3510G>T MANE Select	ENSP00000265773.5:p.Arg1170=
ENST00000357248.8:c.3510G>T	ENSP00000349788.2:p.Arg1170=
ENST00000635739.1:n.2178G>T
ENST00000636157.1:n.1117G>T
ENST00000638139.1:n.544G>T
ENST00000349721.7:c.3510G>T	ENSP00000265773.5:p.Arg1170=
ENST00000357248.7:c.3510G>T	ENSP00000349788.2:p.Arg1170=
ENST00000382194.6:c.3510G>T	ENSP00000371629.1:p.Arg1170=
ENST00000382203.5:c.3510G>T	ENSP00000371638.1:p.Arg1170=
ENST00000450198.6:c.3336G>T	ENSP00000392081.2:p.Arg1112=
ENST00000634760.1:c.3510G>T	ENSP00000489256.1:p.Arg1170=
ENST00000634772.1:c.62-3583G>T
ENST00000634925.1:n.1001G>T
NM_001289396.1:c.3510G>T	NP_001276325.1:p.Arg1170=
NM_001289397.1:c.3336G>T	NP_001276326.1:p.Arg1112=
NM_003070.4:c.3510G>T	NP_003061.3:p.Arg1170=
NM_139045.3:c.3510G>T	NP_620614.2:p.Arg1170=
NM_003070.5:c.3510G>T MANE Select	NP_003061.3:p.Arg1170=
NM_001289397.2:c.3336G>T	NP_001276326.1:p.Arg1112=
NM_139045.4:c.3510G>T	NP_620614.2:p.Arg1170=