Canonical Allele Identifier: CA387266150

Gene: STX2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.130801287T>C , CM000674.2:g.130801287T>C	GRCh38
NC_000012.11:g.131285832T>C , CM000674.1:g.131285832T>C	GRCh37
NC_000012.10:g.129851785T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261653.11:c.541A>G	ENSP00000261653.6:p.Ile181Val
ENST00000706278.1:c.541A>G	ENSP00000516323.1:p.Ile181Val
ENST00000706279.1:c.*448A>G	ENSP00000516324.1:n.*448A>G
ENST00000706280.1:c.*416A>G	ENSP00000516325.1:n.*416A>G
ENST00000706281.1:c.541A>G	ENSP00000516326.1:p.Ile181Val
ENST00000706282.1:c.541A>G	ENSP00000516327.1:p.Ile181Val
ENST00000706283.1:c.*412A>G	ENSP00000516328.1:n.*412A>G
ENST00000706284.1:c.*273A>G	ENSP00000516329.1:n.*273A>G
ENST00000706285.1:c.*48A>G	ENSP00000516330.1:n.*48A>G
ENST00000706286.1:c.*422A>G	ENSP00000516331.1:n.*422A>G
ENST00000392373.7:c.541A>G MANE Select	ENSP00000376178.2:p.Ile181Val
ENST00000261653.10:c.541A>G	ENSP00000261653.6:p.Ile181Val
ENST00000344271.5:c.628A>G
ENST00000392373.6:c.541A>G	ENSP00000376178.2:p.Ile181Val
ENST00000540889.1:n.50A>G
NM_001980.3:c.541A>G	NP_001971.2:p.Ile181Val
NM_194356.2:c.541A>G	NP_919337.1:p.Ile181Val
XM_005253556.3:c.541A>G	XP_005253613.1:p.Ile181Val
XM_005253557.1:c.541A>G	XP_005253614.1:p.Ile181Val
XM_011538026.1:c.541A>G	XP_011536328.1:p.Ile181Val
NM_001351049.1:c.541A>G	NP_001337978.1:p.Ile181Val
NM_001351050.1:c.541A>G	NP_001337979.1:p.Ile181Val
NM_001351051.1:c.319A>G	NP_001337980.1:p.Ile107Val
NM_001351052.1:c.154A>G	NP_001337981.1:p.Ile52Val
NM_001980.4:c.541A>G	NP_001971.2:p.Ile181Val
NM_194356.3:c.541A>G	NP_919337.1:p.Ile181Val
XM_017018978.1:c.637A>G	XP_016874467.1:p.Ile213Val
XM_017018979.2:c.637A>G	XP_016874468.1:p.Ile213Val
XM_017018980.2:c.637A>G	XP_016874469.1:p.Ile213Val
XM_017018981.2:c.637A>G	XP_016874470.1:p.Ile213Val
XM_017018982.2:c.637A>G	XP_016874471.1:p.Ile213Val
XM_017018983.2:c.457A>G	XP_016874472.1:p.Ile153Val
XM_017018984.1:c.319A>G	XP_016874473.1:p.Ile107Val
NM_194356.4:c.541A>G MANE Select	NP_919337.1:p.Ile181Val
NM_001351049.2:c.541A>G	NP_001337978.2:p.Ile181Val
NM_001351050.2:c.541A>G	NP_001337979.1:p.Ile181Val
NM_001351051.2:c.319A>G	NP_001337980.1:p.Ile107Val
NM_001351052.2:c.154A>G	NP_001337981.1:p.Ile52Val
NM_001980.5:c.541A>G	NP_001971.2:p.Ile181Val