Canonical Allele Identifier: CA4963793

Gene: SMARCA2

Linked Data

• ClinVar Variation Id: 588117
• ClinVar RCV Id: RCV001585666 ; RCV002316037
• dbSNP Id: rs78868042
• ExAC: 9:2115920 C / T
• gnomAD v2: 9-2115920-C-T
• gnomAD v3: 9-2115920-C-T
• gnomAD v4: 9-2115920-C-T
• MyVariant Identifiers: chr9:g.2115920C>T (hg19) ; chr9:g.2115920C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2115920C>T , CM000671.2:g.2115920C>T	GRCh38
NC_000009.11:g.2115920C>T , CM000671.1:g.2115920C>T	GRCh37
NC_000009.10:g.2105920C>T	NCBI36
NG_032162.1:g.105579C>T
NG_032162.2:g.140631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3195C>T	ENSP00000515861.1:p.Leu1065=
ENST00000704352.1:c.1174-45766C>T	ENSP00000515863.1:n.1174-45766C>T
ENST00000704353.1:c.1174-45766C>T	ENSP00000515864.1:n.1174-45766C>T
ENST00000704354.1:c.3539C>T
ENST00000704355.1:c.1919C>T
ENST00000349721.8:c.3555C>T MANE Select	ENSP00000265773.5:p.Leu1185=
ENST00000357248.8:c.3555C>T	ENSP00000349788.2:p.Leu1185=
ENST00000635739.1:n.2223C>T
ENST00000636157.1:n.1162C>T
ENST00000638139.1:n.589C>T
ENST00000349721.7:c.3555C>T	ENSP00000265773.5:p.Leu1185=
ENST00000357248.7:c.3555C>T	ENSP00000349788.2:p.Leu1185=
ENST00000382194.6:c.3555C>T	ENSP00000371629.1:p.Leu1185=
ENST00000382203.5:c.3555C>T	ENSP00000371638.1:p.Leu1185=
ENST00000450198.6:c.3381C>T	ENSP00000392081.2:p.Leu1127=
ENST00000634760.1:c.3555C>T	ENSP00000489256.1:p.Leu1185=
ENST00000634772.1:c.62-3538C>T
ENST00000634925.1:n.1046C>T
NM_001289396.1:c.3555C>T	NP_001276325.1:p.Leu1185=
NM_001289397.1:c.3381C>T	NP_001276326.1:p.Leu1127=
NM_003070.4:c.3555C>T	NP_003061.3:p.Leu1185=
NM_139045.3:c.3555C>T	NP_620614.2:p.Leu1185=
NM_003070.5:c.3555C>T MANE Select	NP_003061.3:p.Leu1185=
NM_001289397.2:c.3381C>T	NP_001276326.1:p.Leu1127=
NM_139045.4:c.3555C>T	NP_620614.2:p.Leu1185=