Canonical Allele Identifier: CA372787971

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 1334325
• ClinVar RCV Id: RCV001813839
• dbSNP Id: rs1252315133
• MyVariant Identifiers: chr9:g.2110259A>C (hg19) ; chr9:g.2110259A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2110259A>C , CM000671.2:g.2110259A>C	GRCh38
NC_000009.11:g.2110259A>C , CM000671.1:g.2110259A>C	GRCh37
NC_000009.10:g.2100259A>C	NCBI36
NG_032162.1:g.99918A>C
NG_032162.2:g.134970A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000637134.2:c.3298A>C	ENSP00000489667.2:p.Thr1100Pro
ENST00000704350.1:c.2938A>C	ENSP00000515861.1:p.Thr980Pro
ENST00000704352.1:c.1174-51427A>C	ENSP00000515863.1:n.1174-51427A>C
ENST00000704353.1:c.1174-51427A>C	ENSP00000515864.1:n.1174-51427A>C
ENST00000704354.1:c.3282A>C
ENST00000704355.1:c.1662A>C
ENST00000349721.8:c.3298A>C MANE Select	ENSP00000265773.5:p.Thr1100Pro
ENST00000357248.8:c.3298A>C	ENSP00000349788.2:p.Thr1100Pro
ENST00000635739.1:n.1966A>C
ENST00000636157.1:n.905A>C
ENST00000638139.1:n.332A>C
ENST00000349721.7:c.3298A>C	ENSP00000265773.5:p.Thr1100Pro
ENST00000357248.7:c.3298A>C	ENSP00000349788.2:p.Thr1100Pro
ENST00000382194.6:c.3298A>C	ENSP00000371629.1:p.Thr1100Pro
ENST00000382203.5:c.3298A>C	ENSP00000371638.1:p.Thr1100Pro
ENST00000450198.6:c.3124A>C	ENSP00000392081.2:p.Thr1042Pro
ENST00000634271.1:n.471A>C
ENST00000634760.1:c.3298A>C	ENSP00000489256.1:p.Thr1100Pro
ENST00000634925.1:n.789A>C
NM_001289396.1:c.3298A>C	NP_001276325.1:p.Thr1100Pro
NM_001289397.1:c.3124A>C	NP_001276326.1:p.Thr1042Pro
NM_003070.4:c.3298A>C	NP_003061.3:p.Thr1100Pro
NM_139045.3:c.3298A>C	NP_620614.2:p.Thr1100Pro
NM_003070.5:c.3298A>C MANE Select	NP_003061.3:p.Thr1100Pro
NM_001289397.2:c.3124A>C	NP_001276326.1:p.Thr1042Pro
NM_139045.4:c.3298A>C	NP_620614.2:p.Thr1100Pro