Canonical Allele Identifier: CA372789059

Gene: SMARCA2

Linked Data

• MyVariant Identifiers: chr9:g.2116017C>A (hg19) ; chr9:g.2116017C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2116017C>A , CM000671.2:g.2116017C>A	GRCh38
NC_000009.11:g.2116017C>A , CM000671.1:g.2116017C>A	GRCh37
NC_000009.10:g.2106017C>A	NCBI36
NG_032162.1:g.105676C>A
NG_032162.2:g.140728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.3292C>A	ENSP00000515861.1:p.Gln1098Lys
ENST00000704352.1:c.1174-45669C>A	ENSP00000515863.1:n.1174-45669C>A
ENST00000704353.1:c.1174-45669C>A	ENSP00000515864.1:n.1174-45669C>A
ENST00000704354.1:c.3636C>A
ENST00000704355.1:c.2016C>A
ENST00000349721.8:c.3652C>A MANE Select	ENSP00000265773.5:p.Gln1218Lys
ENST00000357248.8:c.3652C>A	ENSP00000349788.2:p.Gln1218Lys
ENST00000635739.1:n.2320C>A
ENST00000636157.1:n.1259C>A
ENST00000638139.1:n.686C>A
ENST00000349721.7:c.3652C>A	ENSP00000265773.5:p.Gln1218Lys
ENST00000357248.7:c.3652C>A	ENSP00000349788.2:p.Gln1218Lys
ENST00000382194.6:c.3652C>A	ENSP00000371629.1:p.Gln1218Lys
ENST00000382203.5:c.3652C>A	ENSP00000371638.1:p.Gln1218Lys
ENST00000450198.6:c.3478C>A	ENSP00000392081.2:p.Gln1160Lys
ENST00000634760.1:c.3652C>A	ENSP00000489256.1:p.Gln1218Lys
ENST00000634772.1:c.62-3441C>A
ENST00000634925.1:n.1143C>A
NM_001289396.1:c.3652C>A	NP_001276325.1:p.Gln1218Lys
NM_001289397.1:c.3478C>A	NP_001276326.1:p.Gln1160Lys
NM_003070.4:c.3652C>A	NP_003061.3:p.Gln1218Lys
NM_139045.3:c.3652C>A	NP_620614.2:p.Gln1218Lys
NM_003070.5:c.3652C>A MANE Select	NP_003061.3:p.Gln1218Lys
NM_001289397.2:c.3478C>A	NP_001276326.1:p.Gln1160Lys
NM_139045.4:c.3652C>A	NP_620614.2:p.Gln1218Lys