Canonical Allele Identifier: CA372792575

Gene: SMARCA2

Linked Data

• MyVariant Identifiers: chr9:g.2191275T>C (hg19) ; chr9:g.2191275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2191275T>C , CM000671.2:g.2191275T>C	GRCh38
NC_000009.11:g.2191275T>C , CM000671.1:g.2191275T>C	GRCh37
NC_000009.10:g.2181275T>C	NCBI36
NG_032162.1:g.180934T>C
NG_032162.2:g.215986T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.4190T>C	ENSP00000515861.1:p.Val1397Ala
ENST00000704352.1:c.1742T>C	ENSP00000515863.1:p.Val581Ala
ENST00000704353.1:c.1796T>C	ENSP00000515864.1:p.Val599Ala
ENST00000704354.1:c.4534T>C
ENST00000704355.1:c.2914T>C
ENST00000349721.8:c.4604T>C MANE Select	ENSP00000265773.5:p.Val1535Ala
ENST00000357248.8:c.4550T>C	ENSP00000349788.2:p.Val1517Ala
ENST00000635739.1:n.3218T>C
ENST00000636157.1:n.2157T>C
ENST00000636367.1:c.*400T>C	ENSP00000489942.1:n.*400T>C
ENST00000638139.1:n.1638T>C
ENST00000639760.2:c.657T>C
ENST00000302401.8:c.668T>C	ENSP00000305411.3:p.Val223Ala
ENST00000324954.10:c.578T>C	ENSP00000324770.6:p.Val193Ala
ENST00000349721.7:c.4604T>C	ENSP00000265773.5:p.Val1535Ala
ENST00000357248.7:c.4550T>C	ENSP00000349788.2:p.Val1517Ala
ENST00000382183.6:c.542T>C	ENSP00000371618.1:p.Val181Ala
ENST00000382185.6:c.662T>C	ENSP00000371620.2:p.Val221Ala
ENST00000382186.6:c.596T>C	ENSP00000371621.1:p.Val199Ala
ENST00000382194.6:c.4550T>C	ENSP00000371629.1:p.Val1517Ala
ENST00000382203.5:c.4604T>C	ENSP00000371638.1:p.Val1535Ala
ENST00000416751.2:c.542T>C	ENSP00000412242.2:p.Val181Ala
ENST00000417599.6:c.662T>C	ENSP00000387486.2:p.Val221Ala
ENST00000423555.6:c.662T>C	ENSP00000413057.2:p.Val221Ala
ENST00000450198.6:c.4376T>C	ENSP00000392081.2:p.Val1459Ala
ENST00000634338.1:c.716T>C	ENSP00000489388.1:p.Val239Ala
ENST00000634435.1:c.716T>C	ENSP00000489212.1:p.Val239Ala
ENST00000634760.1:c.*211T>C	ENSP00000489256.1:n.*211T>C
ENST00000634781.1:c.614T>C	ENSP00000489302.1:p.Val205Ala
ENST00000634931.1:c.596T>C	ENSP00000489433.1:p.Val199Ala
ENST00000634989.1:c.*400T>C	ENSP00000489100.1:n.*400T>C
ENST00000635273.1:n.446T>C
ENST00000635388.1:c.542T>C	ENSP00000489271.1:p.Val181Ala
ENST00000635530.1:c.662T>C	ENSP00000489204.1:p.Val221Ala
ENST00000635590.1:c.*400T>C	ENSP00000489587.1:n.*400T>C
ENST00000635659.1:c.695T>C
NM_001289396.1:c.4604T>C	NP_001276325.1:p.Val1535Ala
NM_001289397.1:c.4376T>C	NP_001276326.1:p.Val1459Ala
NM_001289398.1:c.578T>C	NP_001276327.1:p.Val193Ala
NM_001289399.1:c.662T>C	NP_001276328.1:p.Val221Ala
NM_001289400.1:c.668T>C	NP_001276329.1:p.Val223Ala
NM_003070.4:c.4604T>C	NP_003061.3:p.Val1535Ala
NM_139045.3:c.4550T>C	NP_620614.2:p.Val1517Ala
XR_001746600.1:n.1362-10253A>G
XR_001746601.1:n.1316-10253A>G
NM_003070.5:c.4604T>C MANE Select	NP_003061.3:p.Val1535Ala
NM_001289397.2:c.4376T>C	NP_001276326.1:p.Val1459Ala
NM_001289398.2:c.578T>C	NP_001276327.1:p.Val193Ala
NM_139045.4:c.4550T>C	NP_620614.2:p.Val1517Ala