Canonical Allele Identifier: CA5946992

Gene: SLC1A2

Linked Data

• ClinVar Variation Id: 771955
• ClinVar RCV Id: RCV000951374
• dbSNP Id: rs114945303
• ExAC: 11:35282468 C / T
• gnomAD v2: 11-35282468-C-T
• gnomAD v3: 11-35260921-C-T
• gnomAD v4: 11-35260921-C-T
• MyVariant Identifiers: chr11:g.35282468C>T (hg19) ; chr11:g.35260921C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260921C>T , CM000673.2:g.35260921C>T	GRCh38
NC_000011.9:g.35282468C>T , CM000673.1:g.35282468C>T	GRCh37
NC_000011.8:g.35239044C>T	NCBI36
NG_008727.1:g.163638G>A
NG_008727.2:g.163638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1698G>A MANE Select	ENSP00000278379.3:p.Glu566=
ENST00000395750.6:c.1686G>A	ENSP00000379099.2:p.Glu562=
ENST00000395753.6:c.1671G>A	ENSP00000379102.1:p.Glu557=
ENST00000479543.2:n.1250G>A
ENST00000642171.1:c.*80G>A	ENSP00000495538.1:n.*80G>A
ENST00000642448.1:n.1790G>A
ENST00000642769.1:c.964G>A
ENST00000643000.1:c.1671G>A	ENSP00000495164.1:p.Glu557=
ENST00000643134.1:c.1685G>A	ENSP00000495188.1:p.Arg562Lys
ENST00000643522.1:c.1464G>A	ENSP00000496375.1:p.Glu488=
ENST00000644050.1:c.1671G>A	ENSP00000496123.1:p.Glu557=
ENST00000644299.1:c.1671G>A	ENSP00000494669.1:p.Glu557=
ENST00000644459.1:c.*190G>A	ENSP00000495861.1:n.*190G>A
ENST00000644779.1:c.1809G>A	ENSP00000494258.1:p.Glu603=
ENST00000644868.1:c.1760G>A	ENSP00000496760.1:n.1760G>A
ENST00000645194.1:c.1671G>A	ENSP00000496093.1:p.Glu557=
ENST00000645303.1:c.1713G>A	ENSP00000496667.1:p.Glu571=
ENST00000645542.1:n.404G>A
ENST00000645634.1:c.1671G>A	ENSP00000493945.1:p.Glu557=
ENST00000646080.1:c.1689G>A	ENSP00000494113.1:p.Glu563=
ENST00000647076.1:c.439G>A
ENST00000647104.1:c.1671G>A	ENSP00000494025.1:p.Glu557=
ENST00000278379.7:c.1698G>A	ENSP00000278379.3:p.Glu566=
ENST00000395750.5:c.1671G>A	ENSP00000379099.1:p.Glu557=
ENST00000395753.5:c.1671G>A	ENSP00000379102.1:p.Glu557=
ENST00000464522.2:c.219+4606G>A	ENSP00000435406.1:n.219+4606G>A
ENST00000479543.1:n.514G>A
NM_001195728.2:c.1671G>A	NP_001182657.1:p.Glu557=
NM_001252652.1:c.1671G>A	NP_001239581.1:p.Glu557=
NM_004171.3:c.1698G>A	NP_004162.2:p.Glu566=
XM_005253067.1:c.1689G>A	XP_005253124.1:p.Glu563=
XM_011520284.1:c.1746G>A	XP_011518586.1:p.Glu582=
XM_011520285.1:c.1686G>A	XP_011518587.1:p.Glu562=
XM_011520286.1:c.1611G>A	XP_011518588.1:p.Glu537=
XM_011520287.1:c.1512G>A	XP_011518589.1:p.Glu504=
XM_011520285.2:c.1686G>A	XP_011518587.1:p.Glu562=
XM_017018136.1:c.1713G>A	XP_016873625.1:p.Glu571=
XM_017018137.1:c.1671G>A	XP_016873626.1:p.Glu557=
XM_017018138.1:c.1671G>A	XP_016873627.1:p.Glu557=
XM_017018139.1:c.1464G>A	XP_016873628.1:p.Glu488=
NM_004171.4:c.1698G>A MANE Select	NP_004162.2:p.Glu566=
NM_001195728.3:c.1671G>A	NP_001182657.1:p.Glu557=
NM_001252652.2:c.1671G>A	NP_001239581.1:p.Glu557=