Canonical Allele Identifier: CA220524932

Gene: SLC1A2

Linked Data

• ClinVar Variation Id: 2919841
• ClinVar RCV Id: RCV003736063
• dbSNP Id: rs1033963024
• gnomAD v2: 11-35282447-C-T
• gnomAD v3: 11-35260900-C-T
• gnomAD v4: 11-35260900-C-T
• MyVariant Identifiers: chr11:g.35282447C>T (hg19) ; chr11:g.35260900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260900C>T , CM000673.2:g.35260900C>T	GRCh38
NC_000011.9:g.35282447C>T , CM000673.1:g.35282447C>T	GRCh37
NC_000011.8:g.35239023C>T	NCBI36
NG_008727.1:g.163659G>A
NG_008727.2:g.163659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1719G>A MANE Select	ENSP00000278379.3:p.Glu573=
ENST00000395750.6:c.1707G>A	ENSP00000379099.2:p.Glu569=
ENST00000395753.6:c.1692G>A	ENSP00000379102.1:p.Glu564=
ENST00000479543.2:n.1271G>A
ENST00000642171.1:c.*101G>A	ENSP00000495538.1:n.*101G>A
ENST00000642448.1:n.1811G>A
ENST00000642769.1:c.985G>A
ENST00000643000.1:c.1692G>A	ENSP00000495164.1:p.Glu564=
ENST00000643134.1:c.1706G>A	ENSP00000495188.1:p.Arg569Lys
ENST00000643522.1:c.1485G>A	ENSP00000496375.1:p.Glu495=
ENST00000644050.1:c.1692G>A	ENSP00000496123.1:p.Glu564=
ENST00000644299.1:c.1692G>A	ENSP00000494669.1:p.Glu564=
ENST00000644459.1:c.*211G>A	ENSP00000495861.1:n.*211G>A
ENST00000644779.1:c.1830G>A	ENSP00000494258.1:p.Glu610=
ENST00000644868.1:c.1781G>A	ENSP00000496760.1:n.1781G>A
ENST00000645194.1:c.1692G>A	ENSP00000496093.1:p.Glu564=
ENST00000645303.1:c.1734G>A	ENSP00000496667.1:p.Glu578=
ENST00000645542.1:n.425G>A
ENST00000645634.1:c.1692G>A	ENSP00000493945.1:p.Glu564=
ENST00000646080.1:c.1710G>A	ENSP00000494113.1:p.Glu570=
ENST00000647076.1:c.460G>A
ENST00000647104.1:c.1692G>A	ENSP00000494025.1:p.Glu564=
ENST00000278379.7:c.1719G>A	ENSP00000278379.3:p.Glu573=
ENST00000395750.5:c.1692G>A	ENSP00000379099.1:p.Glu564=
ENST00000395753.5:c.1692G>A	ENSP00000379102.1:p.Glu564=
ENST00000464522.2:c.219+4627G>A	ENSP00000435406.1:n.219+4627G>A
ENST00000479543.1:n.535G>A
NM_001195728.2:c.1692G>A	NP_001182657.1:p.Glu564=
NM_001252652.1:c.1692G>A	NP_001239581.1:p.Glu564=
NM_004171.3:c.1719G>A	NP_004162.2:p.Glu573=
XM_005253067.1:c.1710G>A	XP_005253124.1:p.Glu570=
XM_011520284.1:c.1767G>A	XP_011518586.1:p.Glu589=
XM_011520285.1:c.1707G>A	XP_011518587.1:p.Glu569=
XM_011520286.1:c.1632G>A	XP_011518588.1:p.Glu544=
XM_011520287.1:c.1533G>A	XP_011518589.1:p.Glu511=
XM_011520285.2:c.1707G>A	XP_011518587.1:p.Glu569=
XM_017018136.1:c.1734G>A	XP_016873625.1:p.Glu578=
XM_017018137.1:c.1692G>A	XP_016873626.1:p.Glu564=
XM_017018138.1:c.1692G>A	XP_016873627.1:p.Glu564=
XM_017018139.1:c.1485G>A	XP_016873628.1:p.Glu495=
NM_004171.4:c.1719G>A MANE Select	NP_004162.2:p.Glu573=
NM_001195728.3:c.1692G>A	NP_001182657.1:p.Glu564=
NM_001252652.2:c.1692G>A	NP_001239581.1:p.Glu564=