Canonical Allele Identifier: CA463852726

Gene: SMARCA2

Linked Data

• dbSNP Id: rs1473917937
• gnomAD v2: 9-2115917-C-T
• gnomAD v4: 9-2115917-C-T
• MyVariant Identifiers: chr9:g.2115917C>T (hg19) ; chr9:g.2115917C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115917C>T , CM000671.2:g.2115917C>T	GRCh38
NC_000009.11:g.2115917C>T , CM000671.1:g.2115917C>T	GRCh37
NC_000009.10:g.2105917C>T	NCBI36
NG_032162.1:g.105576C>T
NG_032162.2:g.140628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3192C>T	ENSP00000515861.1:p.Ile1064=
ENST00000704352.1:c.1174-45769C>T	ENSP00000515863.1:n.1174-45769C>T
ENST00000704353.1:c.1174-45769C>T	ENSP00000515864.1:n.1174-45769C>T
ENST00000704354.1:c.3536C>T
ENST00000704355.1:c.1916C>T
ENST00000349721.8:c.3552C>T MANE Select	ENSP00000265773.5:p.Ile1184=
ENST00000357248.8:c.3552C>T	ENSP00000349788.2:p.Ile1184=
ENST00000635739.1:n.2220C>T
ENST00000636157.1:n.1159C>T
ENST00000638139.1:n.586C>T
ENST00000349721.7:c.3552C>T	ENSP00000265773.5:p.Ile1184=
ENST00000357248.7:c.3552C>T	ENSP00000349788.2:p.Ile1184=
ENST00000382194.6:c.3552C>T	ENSP00000371629.1:p.Ile1184=
ENST00000382203.5:c.3552C>T	ENSP00000371638.1:p.Ile1184=
ENST00000450198.6:c.3378C>T	ENSP00000392081.2:p.Ile1126=
ENST00000634760.1:c.3552C>T	ENSP00000489256.1:p.Ile1184=
ENST00000634772.1:c.62-3541C>T
ENST00000634925.1:n.1043C>T
NM_001289396.1:c.3552C>T	NP_001276325.1:p.Ile1184=
NM_001289397.1:c.3378C>T	NP_001276326.1:p.Ile1126=
NM_003070.4:c.3552C>T	NP_003061.3:p.Ile1184=
NM_139045.3:c.3552C>T	NP_620614.2:p.Ile1184=
NM_003070.5:c.3552C>T MANE Select	NP_003061.3:p.Ile1184=
NM_001289397.2:c.3378C>T	NP_001276326.1:p.Ile1126=
NM_139045.4:c.3552C>T	NP_620614.2:p.Ile1184=