Canonical Allele Identifier: CA151079

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 126342
• ClinVar RCV Id: RCV000114285 ; RCV000260880 ; RCV001561354 ; RCV002312012
• dbSNP Id: rs138404604
• ExAC: 9:2054672 C / G
• gnomAD v2: 9-2054672-C-G
• gnomAD v3: 9-2054672-C-G
• gnomAD v4: 9-2054672-C-G
• MyVariant Identifiers: chr9:g.2054672C>G (hg19) ; chr9:g.2054672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2054672C>G , CM000671.2:g.2054672C>G	GRCh38
NC_000009.11:g.2054672C>G , CM000671.1:g.2054672C>G	GRCh37
NC_000009.10:g.2044672C>G	NCBI36
NG_032162.1:g.44331C>G
NG_032162.2:g.79383C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000637134.2:c.1122C>G	ENSP00000489667.2:p.Thr374=
ENST00000704350.1:c.762C>G	ENSP00000515861.1:p.Thr254=
ENST00000704352.1:c.1122C>G	ENSP00000515863.1:p.Thr374=
ENST00000704353.1:c.1122C>G	ENSP00000515864.1:p.Thr374=
ENST00000704354.1:c.1106C>G
ENST00000349721.8:c.1122C>G MANE Select	ENSP00000265773.5:p.Thr374=
ENST00000357248.8:c.1122C>G	ENSP00000349788.2:p.Thr374=
ENST00000349721.7:c.1122C>G	ENSP00000265773.5:p.Thr374=
ENST00000357248.7:c.1122C>G	ENSP00000349788.2:p.Thr374=
ENST00000382194.6:c.1122C>G	ENSP00000371629.1:p.Thr374=
ENST00000382203.5:c.1122C>G	ENSP00000371638.1:p.Thr374=
ENST00000450198.6:c.1122C>G	ENSP00000392081.2:p.Thr374=
ENST00000634760.1:c.1122C>G	ENSP00000489256.1:p.Thr374=
NM_001289396.1:c.1122C>G	NP_001276325.1:p.Thr374=
NM_001289397.1:c.1122C>G	NP_001276326.1:p.Thr374=
NM_003070.4:c.1122C>G	NP_003061.3:p.Thr374=
NM_139045.3:c.1122C>G	NP_620614.2:p.Thr374=
NM_003070.5:c.1122C>G MANE Select	NP_003061.3:p.Thr374=
NM_001289397.2:c.1122C>G	NP_001276326.1:p.Thr374=
NM_139045.4:c.1122C>G	NP_620614.2:p.Thr374=