Canonical Allele Identifier: CA372789020

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2115997-A-G
• MyVariant Identifiers: chr9:g.2115997A>G (hg19) ; chr9:g.2115997A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115997A>G , CM000671.2:g.2115997A>G	GRCh38
NC_000009.11:g.2115997A>G , CM000671.1:g.2115997A>G	GRCh37
NC_000009.10:g.2105997A>G	NCBI36
NG_032162.1:g.105656A>G
NG_032162.2:g.140708A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3272A>G	ENSP00000515861.1:p.His1091Arg
ENST00000704352.1:c.1174-45689A>G	ENSP00000515863.1:n.1174-45689A>G
ENST00000704353.1:c.1174-45689A>G	ENSP00000515864.1:n.1174-45689A>G
ENST00000704354.1:c.3616A>G
ENST00000704355.1:c.1996A>G
ENST00000349721.8:c.3632A>G MANE Select	ENSP00000265773.5:p.His1211Arg
ENST00000357248.8:c.3632A>G	ENSP00000349788.2:p.His1211Arg
ENST00000635739.1:n.2300A>G
ENST00000636157.1:n.1239A>G
ENST00000638139.1:n.666A>G
ENST00000349721.7:c.3632A>G	ENSP00000265773.5:p.His1211Arg
ENST00000357248.7:c.3632A>G	ENSP00000349788.2:p.His1211Arg
ENST00000382194.6:c.3632A>G	ENSP00000371629.1:p.His1211Arg
ENST00000382203.5:c.3632A>G	ENSP00000371638.1:p.His1211Arg
ENST00000450198.6:c.3458A>G	ENSP00000392081.2:p.His1153Arg
ENST00000634760.1:c.3632A>G	ENSP00000489256.1:p.His1211Arg
ENST00000634772.1:c.62-3461A>G
ENST00000634925.1:n.1123A>G
NM_001289396.1:c.3632A>G	NP_001276325.1:p.His1211Arg
NM_001289397.1:c.3458A>G	NP_001276326.1:p.His1153Arg
NM_003070.4:c.3632A>G	NP_003061.3:p.His1211Arg
NM_139045.3:c.3632A>G	NP_620614.2:p.His1211Arg
NM_003070.5:c.3632A>G MANE Select	NP_003061.3:p.His1211Arg
NM_001289397.2:c.3458A>G	NP_001276326.1:p.His1153Arg
NM_139045.4:c.3632A>G	NP_620614.2:p.His1211Arg