Canonical Allele Identifier: CA372792685

Gene: SMARCA2

Linked Data

• gnomAD v4: 9-2191321-C-G
• MyVariant Identifiers: chr9:g.2191321C>G (hg19) ; chr9:g.2191321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2191321C>G , CM000671.2:g.2191321C>G	GRCh38
NC_000009.11:g.2191321C>G , CM000671.1:g.2191321C>G	GRCh37
NC_000009.10:g.2181321C>G	NCBI36
NG_032162.1:g.180980C>G
NG_032162.2:g.216032C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.4236C>G	ENSP00000515861.1:p.Asp1412Glu
ENST00000704352.1:c.1788C>G	ENSP00000515863.1:p.Asp596Glu
ENST00000704353.1:c.1842C>G	ENSP00000515864.1:p.Asp614Glu
ENST00000704354.1:c.4580C>G
ENST00000704355.1:c.2960C>G
ENST00000349721.8:c.4650C>G MANE Select	ENSP00000265773.5:p.Asp1550Glu
ENST00000357248.8:c.4596C>G	ENSP00000349788.2:p.Asp1532Glu
ENST00000635739.1:n.3264C>G
ENST00000636157.1:n.2203C>G
ENST00000636367.1:c.*446C>G	ENSP00000489942.1:n.*446C>G
ENST00000638139.1:n.1684C>G
ENST00000639760.2:c.703C>G
ENST00000302401.8:c.714C>G	ENSP00000305411.3:p.Asp238Glu
ENST00000324954.10:c.624C>G	ENSP00000324770.6:p.Asp208Glu
ENST00000349721.7:c.4650C>G	ENSP00000265773.5:p.Asp1550Glu
ENST00000357248.7:c.4596C>G	ENSP00000349788.2:p.Asp1532Glu
ENST00000382183.6:c.588C>G	ENSP00000371618.1:p.Asp196Glu
ENST00000382185.6:c.708C>G	ENSP00000371620.2:p.Asp236Glu
ENST00000382186.6:c.642C>G	ENSP00000371621.1:p.Asp214Glu
ENST00000382194.6:c.4596C>G	ENSP00000371629.1:p.Asp1532Glu
ENST00000382203.5:c.4650C>G	ENSP00000371638.1:p.Asp1550Glu
ENST00000417599.6:c.708C>G	ENSP00000387486.2:p.Asp236Glu
ENST00000450198.6:c.4422C>G	ENSP00000392081.2:p.Asp1474Glu
ENST00000634760.1:c.*257C>G	ENSP00000489256.1:n.*257C>G
ENST00000634781.1:c.660C>G	ENSP00000489302.1:p.Asp220Glu
ENST00000634931.1:c.642C>G	ENSP00000489433.1:p.Asp214Glu
ENST00000634989.1:c.*446C>G	ENSP00000489100.1:n.*446C>G
ENST00000635273.1:n.492C>G
ENST00000635388.1:c.588C>G	ENSP00000489271.1:p.Asp196Glu
ENST00000635590.1:c.*446C>G	ENSP00000489587.1:n.*446C>G
ENST00000635659.1:c.741C>G
NM_001289396.1:c.4650C>G	NP_001276325.1:p.Asp1550Glu
NM_001289397.1:c.4422C>G	NP_001276326.1:p.Asp1474Glu
NM_001289398.1:c.624C>G	NP_001276327.1:p.Asp208Glu
NM_001289399.1:c.708C>G	NP_001276328.1:p.Asp236Glu
NM_001289400.1:c.714C>G	NP_001276329.1:p.Asp238Glu
NM_003070.4:c.4650C>G	NP_003061.3:p.Asp1550Glu
NM_139045.3:c.4596C>G	NP_620614.2:p.Asp1532Glu
XR_001746600.1:n.1362-10299G>C
XR_001746601.1:n.1316-10299G>C
NM_003070.5:c.4650C>G MANE Select	NP_003061.3:p.Asp1550Glu
NM_001289397.2:c.4422C>G	NP_001276326.1:p.Asp1474Glu
NM_001289398.2:c.624C>G	NP_001276327.1:p.Asp208Glu
NM_139045.4:c.4596C>G	NP_620614.2:p.Asp1532Glu