Canonical Allele Identifier: CA463852693

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2115869-G-A
• MyVariant Identifiers: chr9:g.2115869G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115869G>A , CM000671.2:g.2115869G>A	GRCh38
NC_000009.11:g.2115869G>A , CM000671.1:g.2115869G>A	GRCh37
NC_000009.10:g.2105869G>A	NCBI36
NG_032162.1:g.105528G>A
NG_032162.2:g.140580G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3144G>A	ENSP00000515861.1:p.Glu1048=
ENST00000704352.1:c.1174-45817G>A	ENSP00000515863.1:n.1174-45817G>A
ENST00000704353.1:c.1174-45817G>A	ENSP00000515864.1:n.1174-45817G>A
ENST00000704354.1:c.3488G>A
ENST00000704355.1:c.1868G>A
ENST00000349721.8:c.3504G>A MANE Select	ENSP00000265773.5:p.Glu1168=
ENST00000357248.8:c.3504G>A	ENSP00000349788.2:p.Glu1168=
ENST00000635739.1:n.2172G>A
ENST00000636157.1:n.1111G>A
ENST00000638139.1:n.538G>A
ENST00000349721.7:c.3504G>A	ENSP00000265773.5:p.Glu1168=
ENST00000357248.7:c.3504G>A	ENSP00000349788.2:p.Glu1168=
ENST00000382194.6:c.3504G>A	ENSP00000371629.1:p.Glu1168=
ENST00000382203.5:c.3504G>A	ENSP00000371638.1:p.Glu1168=
ENST00000450198.6:c.3330G>A	ENSP00000392081.2:p.Glu1110=
ENST00000634760.1:c.3504G>A	ENSP00000489256.1:p.Glu1168=
ENST00000634772.1:c.62-3589G>A
ENST00000634925.1:n.995G>A
NM_001289396.1:c.3504G>A	NP_001276325.1:p.Glu1168=
NM_001289397.1:c.3330G>A	NP_001276326.1:p.Glu1110=
NM_003070.4:c.3504G>A	NP_003061.3:p.Glu1168=
NM_139045.3:c.3504G>A	NP_620614.2:p.Glu1168=
NM_003070.5:c.3504G>A MANE Select	NP_003061.3:p.Glu1168=
NM_001289397.2:c.3330G>A	NP_001276326.1:p.Glu1110=
NM_139045.4:c.3504G>A	NP_620614.2:p.Glu1168=