Canonical Allele Identifier: CA372792621

Gene: SMARCA2

Linked Data

• MyVariant Identifiers: chr9:g.2191292C>T (hg19) ; chr9:g.2191292C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.2191292C>T , CM000671.2:g.2191292C>T	GRCh38
NC_000009.11:g.2191292C>T , CM000671.1:g.2191292C>T	GRCh37
NC_000009.10:g.2181292C>T	NCBI36
NG_032162.1:g.180951C>T
NG_032162.2:g.216003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000704350.1:c.4207C>T	ENSP00000515861.1:p.Leu1403Phe
ENST00000704352.1:c.1759C>T	ENSP00000515863.1:p.Leu587Phe
ENST00000704353.1:c.1813C>T	ENSP00000515864.1:p.Leu605Phe
ENST00000704354.1:c.4551C>T
ENST00000704355.1:c.2931C>T
ENST00000349721.8:c.4621C>T MANE Select	ENSP00000265773.5:p.Leu1541Phe
ENST00000357248.8:c.4567C>T	ENSP00000349788.2:p.Leu1523Phe
ENST00000635739.1:n.3235C>T
ENST00000636157.1:n.2174C>T
ENST00000636367.1:c.*417C>T	ENSP00000489942.1:n.*417C>T
ENST00000638139.1:n.1655C>T
ENST00000639760.2:c.674C>T
ENST00000302401.8:c.685C>T	ENSP00000305411.3:p.Leu229Phe
ENST00000324954.10:c.595C>T	ENSP00000324770.6:p.Leu199Phe
ENST00000349721.7:c.4621C>T	ENSP00000265773.5:p.Leu1541Phe
ENST00000357248.7:c.4567C>T	ENSP00000349788.2:p.Leu1523Phe
ENST00000382183.6:c.559C>T	ENSP00000371618.1:p.Leu187Phe
ENST00000382185.6:c.679C>T	ENSP00000371620.2:p.Leu227Phe
ENST00000382186.6:c.613C>T	ENSP00000371621.1:p.Leu205Phe
ENST00000382194.6:c.4567C>T	ENSP00000371629.1:p.Leu1523Phe
ENST00000382203.5:c.4621C>T	ENSP00000371638.1:p.Leu1541Phe
ENST00000416751.2:c.559C>T	ENSP00000412242.2:p.Leu187Phe
ENST00000417599.6:c.679C>T	ENSP00000387486.2:p.Leu227Phe
ENST00000423555.6:c.679C>T	ENSP00000413057.2:p.Leu227Phe
ENST00000450198.6:c.4393C>T	ENSP00000392081.2:p.Leu1465Phe
ENST00000634338.1:c.733C>T
ENST00000634435.1:c.733C>T	ENSP00000489212.1:p.Leu245Phe
ENST00000634760.1:c.*228C>T	ENSP00000489256.1:n.*228C>T
ENST00000634781.1:c.631C>T	ENSP00000489302.1:p.Leu211Phe
ENST00000634931.1:c.613C>T	ENSP00000489433.1:p.Leu205Phe
ENST00000634989.1:c.*417C>T	ENSP00000489100.1:n.*417C>T
ENST00000635273.1:n.463C>T
ENST00000635388.1:c.559C>T	ENSP00000489271.1:p.Leu187Phe
ENST00000635530.1:c.679C>T	ENSP00000489204.1:p.Leu227Phe
ENST00000635590.1:c.*417C>T	ENSP00000489587.1:n.*417C>T
ENST00000635659.1:c.712C>T
NM_001289396.1:c.4621C>T	NP_001276325.1:p.Leu1541Phe
NM_001289397.1:c.4393C>T	NP_001276326.1:p.Leu1465Phe
NM_001289398.1:c.595C>T	NP_001276327.1:p.Leu199Phe
NM_001289399.1:c.679C>T	NP_001276328.1:p.Leu227Phe
NM_001289400.1:c.685C>T	NP_001276329.1:p.Leu229Phe
NM_003070.4:c.4621C>T	NP_003061.3:p.Leu1541Phe
NM_139045.3:c.4567C>T	NP_620614.2:p.Leu1523Phe
XR_001746600.1:n.1362-10270G>A
XR_001746601.1:n.1316-10270G>A
NM_003070.5:c.4621C>T MANE Select	NP_003061.3:p.Leu1541Phe
NM_001289397.2:c.4393C>T	NP_001276326.1:p.Leu1465Phe
NM_001289398.2:c.595C>T	NP_001276327.1:p.Leu199Phe
NM_139045.4:c.4567C>T	NP_620614.2:p.Leu1523Phe