Canonical Allele Identifier: CA372782381

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 982400
• ClinVar RCV Id: RCV001261978
• dbSNP Id: rs1820557069
• MyVariant Identifiers: chr9:g.2060823A>G (hg19) ; chr9:g.2060823A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2060823A>G , CM000671.2:g.2060823A>G	GRCh38
NC_000009.11:g.2060823A>G , CM000671.1:g.2060823A>G	GRCh37
NC_000009.10:g.2050823A>G	NCBI36
NG_032162.1:g.50482A>G
NG_032162.2:g.85534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000637134.2:c.1529A>G	ENSP00000489667.2:p.Asp510Gly
ENST00000704350.1:c.1169A>G	ENSP00000515861.1:p.Asp390Gly
ENST00000704352.1:c.1173+6100A>G	ENSP00000515863.1:n.1173+6100A>G
ENST00000704353.1:c.1173+6100A>G	ENSP00000515864.1:n.1173+6100A>G
ENST00000704354.1:c.1513A>G
ENST00000704355.1:c.136A>G
ENST00000349721.8:c.1529A>G MANE Select	ENSP00000265773.5:p.Asp510Gly
ENST00000357248.8:c.1529A>G	ENSP00000349788.2:p.Asp510Gly
ENST00000349721.7:c.1529A>G	ENSP00000265773.5:p.Asp510Gly
ENST00000357248.7:c.1529A>G	ENSP00000349788.2:p.Asp510Gly
ENST00000382194.6:c.1529A>G	ENSP00000371629.1:p.Asp510Gly
ENST00000382203.5:c.1529A>G	ENSP00000371638.1:p.Asp510Gly
ENST00000450198.6:c.1529A>G	ENSP00000392081.2:p.Asp510Gly
ENST00000634403.1:n.312A>G
ENST00000634760.1:c.1529A>G	ENSP00000489256.1:p.Asp510Gly
ENST00000635030.1:n.466A>G
NM_001289396.1:c.1529A>G	NP_001276325.1:p.Asp510Gly
NM_001289397.1:c.1529A>G	NP_001276326.1:p.Asp510Gly
NM_003070.4:c.1529A>G	NP_003061.3:p.Asp510Gly
NM_139045.3:c.1529A>G	NP_620614.2:p.Asp510Gly
NM_003070.5:c.1529A>G MANE Select	NP_003061.3:p.Asp510Gly
NM_001289397.2:c.1529A>G	NP_001276326.1:p.Asp510Gly
NM_139045.4:c.1529A>G	NP_620614.2:p.Asp510Gly