Canonical Allele Identifier: CA5947135

Gene: SLC1A2

Linked Data

• ClinVar Variation Id: 2141908
• ClinVar RCV Id: RCV003058785
• dbSNP Id: rs779783896
• ExAC: 11:35308373 G / A
• gnomAD v2: 11-35308373-G-A
• gnomAD v3: 11-35286826-G-A
• gnomAD v4: 11-35286826-G-A
• COSMIC: COSM4966939
• MyVariant Identifiers: chr11:g.35308373G>A (hg19) ; chr11:g.35286826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35286826G>A , CM000673.2:g.35286826G>A	GRCh38
NC_000011.9:g.35308373G>A , CM000673.1:g.35308373G>A	GRCh37
NC_000011.8:g.35264949G>A	NCBI36
NG_008727.1:g.137733C>T
NG_008727.2:g.137733C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000278379.9:c.1217C>T MANE Select	ENSP00000278379.3:p.Ala406Val
ENST00000395750.6:c.1205C>T	ENSP00000379099.2:p.Ala402Val
ENST00000395753.6:c.1190C>T	ENSP00000379102.1:p.Ala397Val
ENST00000449068.2:c.1217C>T	ENSP00000406133.2:p.Ala406Val
ENST00000479543.2:n.769C>T
ENST00000531628.2:c.1217C>T	ENSP00000436029.2:p.Ala406Val
ENST00000606205.6:c.1217C>T	ENSP00000476124.2:p.Ala406Val
ENST00000642171.1:c.1217C>T	ENSP00000495538.1:p.Ala406Val
ENST00000642183.1:n.1245C>T
ENST00000642216.1:n.765C>T
ENST00000642224.1:n.1379C>T
ENST00000642448.1:n.1309C>T
ENST00000642578.1:c.1190C>T	ENSP00000494076.1:p.Ala397Val
ENST00000642769.1:c.483C>T
ENST00000643000.1:c.1190C>T	ENSP00000495164.1:p.Ala397Val
ENST00000643134.1:c.1217C>T	ENSP00000495188.1:p.Ala406Val
ENST00000643305.1:c.1217C>T	ENSP00000494828.1:p.Ala406Val
ENST00000643454.1:c.1208C>T	ENSP00000495126.1:p.Ala403Val
ENST00000643522.1:c.983C>T	ENSP00000496375.1:p.Ala328Val
ENST00000644050.1:c.1190C>T	ENSP00000496123.1:p.Ala397Val
ENST00000644299.1:c.1190C>T	ENSP00000494669.1:p.Ala397Val
ENST00000644351.1:c.1217C>T	ENSP00000496587.1:p.Ala406Val
ENST00000644459.1:c.1217C>T	ENSP00000495861.1:p.Ala406Val
ENST00000644779.1:c.1328C>T	ENSP00000494258.1:p.Ala443Val
ENST00000644868.1:c.1208C>T	ENSP00000496760.1:p.Ala403Val
ENST00000645194.1:c.1190C>T	ENSP00000496093.1:p.Ala397Val
ENST00000645303.1:c.1232C>T	ENSP00000496667.1:p.Ala411Val
ENST00000645634.1:c.1190C>T	ENSP00000493945.1:p.Ala397Val
ENST00000645892.1:n.1322C>T
ENST00000646080.1:c.1208C>T	ENSP00000494113.1:p.Ala403Val
ENST00000646099.1:c.1205C>T	ENSP00000495799.1:p.Ala402Val
ENST00000646167.1:c.833C>T	ENSP00000495246.1:p.Ala278Val
ENST00000646585.1:n.1372C>T
ENST00000647076.1:c.93C>T
ENST00000647104.1:c.1190C>T	ENSP00000494025.1:p.Ala397Val
ENST00000647193.1:n.343C>T
ENST00000647372.1:c.1190C>T	ENSP00000495277.1:p.Ala397Val
ENST00000278379.7:c.1217C>T	ENSP00000278379.3:p.Ala406Val
ENST00000395750.5:c.1190C>T	ENSP00000379099.1:p.Ala397Val
ENST00000395753.5:c.1190C>T	ENSP00000379102.1:p.Ala397Val
ENST00000531628.1:c.370C>T
ENST00000606205.5:c.1217C>T	ENSP00000476124.1:p.Ala406Val
NM_001195728.2:c.1190C>T	NP_001182657.1:p.Ala397Val
NM_001252652.1:c.1190C>T	NP_001239581.1:p.Ala397Val
NM_004171.3:c.1217C>T	NP_004162.2:p.Ala406Val
XM_005253067.1:c.1208C>T	XP_005253124.1:p.Ala403Val
XM_011520284.1:c.1265C>T	XP_011518586.1:p.Ala422Val
XM_011520285.1:c.1205C>T	XP_011518587.1:p.Ala402Val
XM_011520286.1:c.1265C>T	XP_011518588.1:p.Ala422Val
XM_011520287.1:c.1031C>T	XP_011518589.1:p.Ala344Val
XM_011520285.2:c.1205C>T	XP_011518587.1:p.Ala402Val
XM_017018136.1:c.1232C>T	XP_016873625.1:p.Ala411Val
XM_017018137.1:c.1190C>T	XP_016873626.1:p.Ala397Val
XM_017018138.1:c.1190C>T	XP_016873627.1:p.Ala397Val
XM_017018139.1:c.983C>T	XP_016873628.1:p.Ala328Val
NM_004171.4:c.1217C>T MANE Select	NP_004162.2:p.Ala406Val
NM_001195728.3:c.1190C>T	NP_001182657.1:p.Ala397Val
NM_001252652.2:c.1190C>T	NP_001239581.1:p.Ala397Val