Canonical Allele Identifier: CA372788973

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 430455
• ClinVar RCV Id: RCV000494188
• dbSNP Id: rs1131691978
• MyVariant Identifiers: chr9:g.2115977T>G (hg19) ; chr9:g.2115977T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115977T>G , CM000671.2:g.2115977T>G	GRCh38
NC_000009.11:g.2115977T>G , CM000671.1:g.2115977T>G	GRCh37
NC_000009.10:g.2105977T>G	NCBI36
NG_032162.1:g.105636T>G
NG_032162.2:g.140688T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3252T>G	ENSP00000515861.1:p.Phe1084Leu
ENST00000704352.1:c.1174-45709T>G	ENSP00000515863.1:n.1174-45709T>G
ENST00000704353.1:c.1174-45709T>G	ENSP00000515864.1:n.1174-45709T>G
ENST00000704354.1:c.3596T>G
ENST00000704355.1:c.1976T>G
ENST00000349721.8:c.3612T>G MANE Select	ENSP00000265773.5:p.Phe1204Leu
ENST00000357248.8:c.3612T>G	ENSP00000349788.2:p.Phe1204Leu
ENST00000635739.1:n.2280T>G
ENST00000636157.1:n.1219T>G
ENST00000638139.1:n.646T>G
ENST00000349721.7:c.3612T>G	ENSP00000265773.5:p.Phe1204Leu
ENST00000357248.7:c.3612T>G	ENSP00000349788.2:p.Phe1204Leu
ENST00000382194.6:c.3612T>G	ENSP00000371629.1:p.Phe1204Leu
ENST00000382203.5:c.3612T>G	ENSP00000371638.1:p.Phe1204Leu
ENST00000450198.6:c.3438T>G	ENSP00000392081.2:p.Phe1146Leu
ENST00000634760.1:c.3612T>G	ENSP00000489256.1:p.Phe1204Leu
ENST00000634772.1:c.62-3481T>G
ENST00000634925.1:n.1103T>G
NM_001289396.1:c.3612T>G	NP_001276325.1:p.Phe1204Leu
NM_001289397.1:c.3438T>G	NP_001276326.1:p.Phe1146Leu
NM_003070.4:c.3612T>G	NP_003061.3:p.Phe1204Leu
NM_139045.3:c.3612T>G	NP_620614.2:p.Phe1204Leu
NM_003070.5:c.3612T>G MANE Select	NP_003061.3:p.Phe1204Leu
NM_001289397.2:c.3438T>G	NP_001276326.1:p.Phe1146Leu
NM_139045.4:c.3612T>G	NP_620614.2:p.Phe1204Leu