Canonical Allele Identifier: CA372790437

Gene: SMARCA2

Linked Data

• MyVariant Identifiers: chr9:g.2123809A>T (hg19) ; chr9:g.2123809A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2123809A>T , CM000671.2:g.2123809A>T	GRCh38
NC_000009.11:g.2123809A>T , CM000671.1:g.2123809A>T	GRCh37
NC_000009.10:g.2113809A>T	NCBI36
NG_032162.1:g.113468A>T
NG_032162.2:g.148520A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000704350.1:c.3493A>T	ENSP00000515861.1:p.Ile1165Phe
ENST00000704352.1:c.1174-37877A>T	ENSP00000515863.1:n.1174-37877A>T
ENST00000704353.1:c.1174-37877A>T	ENSP00000515864.1:n.1174-37877A>T
ENST00000704354.1:c.3837A>T
ENST00000704355.1:c.2217A>T
ENST00000349721.8:c.3853A>T MANE Select	ENSP00000265773.5:p.Ile1285Phe
ENST00000357248.8:c.3853A>T	ENSP00000349788.2:p.Ile1285Phe
ENST00000635739.1:n.2521A>T
ENST00000636157.1:n.1460A>T
ENST00000638139.1:n.887A>T
ENST00000349721.7:c.3853A>T	ENSP00000265773.5:p.Ile1285Phe
ENST00000357248.7:c.3853A>T	ENSP00000349788.2:p.Ile1285Phe
ENST00000382194.6:c.3853A>T	ENSP00000371629.1:p.Ile1285Phe
ENST00000382203.5:c.3853A>T	ENSP00000371638.1:p.Ile1285Phe
ENST00000450198.6:c.3679A>T	ENSP00000392081.2:p.Ile1227Phe
ENST00000634760.1:c.3853A>T	ENSP00000489256.1:p.Ile1285Phe
ENST00000634772.1:c.230A>T
ENST00000634925.1:n.1344A>T
NM_001289396.1:c.3853A>T	NP_001276325.1:p.Ile1285Phe
NM_001289397.1:c.3679A>T	NP_001276326.1:p.Ile1227Phe
NM_003070.4:c.3853A>T	NP_003061.3:p.Ile1285Phe
NM_139045.3:c.3853A>T	NP_620614.2:p.Ile1285Phe
NM_003070.5:c.3853A>T MANE Select	NP_003061.3:p.Ile1285Phe
NM_001289397.2:c.3679A>T	NP_001276326.1:p.Ile1227Phe
NM_139045.4:c.3853A>T	NP_620614.2:p.Ile1285Phe