Canonical Allele Identifier: CA5946996

Gene: SLC1A2

Linked Data

• ClinVar Variation Id: 2021547
• ClinVar RCV Id: RCV002862733
• dbSNP Id: rs541319843
• ExAC: 11:35282483 G / A
• gnomAD v2: 11-35282483-G-A
• gnomAD v3: 11-35260936-G-A
• gnomAD v4: 11-35260936-G-A
• MyVariant Identifiers: chr11:g.35282483G>A (hg19) ; chr11:g.35260936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260936G>A , CM000673.2:g.35260936G>A	GRCh38
NC_000011.9:g.35282483G>A , CM000673.1:g.35282483G>A	GRCh37
NC_000011.8:g.35239059G>A	NCBI36
NG_008727.1:g.163623C>T
NG_008727.2:g.163623C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1683C>T MANE Select	ENSP00000278379.3:p.Ala561=
ENST00000395750.6:c.1671C>T	ENSP00000379099.2:p.Ala557=
ENST00000395753.6:c.1656C>T	ENSP00000379102.1:p.Ala552=
ENST00000479543.2:n.1235C>T
ENST00000642171.1:c.*65C>T	ENSP00000495538.1:n.*65C>T
ENST00000642448.1:n.1775C>T
ENST00000642769.1:c.949C>T
ENST00000643000.1:c.1656C>T	ENSP00000495164.1:p.Ala552=
ENST00000643134.1:c.1670C>T	ENSP00000495188.1:p.Pro557Leu
ENST00000643522.1:c.1449C>T	ENSP00000496375.1:p.Ala483=
ENST00000644050.1:c.1656C>T	ENSP00000496123.1:p.Ala552=
ENST00000644299.1:c.1656C>T	ENSP00000494669.1:p.Ala552=
ENST00000644459.1:c.*175C>T	ENSP00000495861.1:n.*175C>T
ENST00000644779.1:c.1794C>T	ENSP00000494258.1:p.Ala598=
ENST00000644868.1:c.1745C>T	ENSP00000496760.1:n.1745C>T
ENST00000645194.1:c.1656C>T	ENSP00000496093.1:p.Ala552=
ENST00000645303.1:c.1698C>T	ENSP00000496667.1:p.Ala566=
ENST00000645542.1:n.389C>T
ENST00000645634.1:c.1656C>T	ENSP00000493945.1:p.Ala552=
ENST00000646080.1:c.1674C>T	ENSP00000494113.1:p.Ala558=
ENST00000647076.1:c.424C>T
ENST00000647104.1:c.1656C>T	ENSP00000494025.1:p.Ala552=
ENST00000278379.7:c.1683C>T	ENSP00000278379.3:p.Ala561=
ENST00000395750.5:c.1656C>T	ENSP00000379099.1:p.Ala552=
ENST00000395753.5:c.1656C>T	ENSP00000379102.1:p.Ala552=
ENST00000464522.2:c.219+4591C>T	ENSP00000435406.1:n.219+4591C>T
ENST00000479543.1:n.499C>T
NM_001195728.2:c.1656C>T	NP_001182657.1:p.Ala552=
NM_001252652.1:c.1656C>T	NP_001239581.1:p.Ala552=
NM_004171.3:c.1683C>T	NP_004162.2:p.Ala561=
XM_005253067.1:c.1674C>T	XP_005253124.1:p.Ala558=
XM_011520284.1:c.1731C>T	XP_011518586.1:p.Ala577=
XM_011520285.1:c.1671C>T	XP_011518587.1:p.Ala557=
XM_011520286.1:c.1596C>T	XP_011518588.1:p.Ala532=
XM_011520287.1:c.1497C>T	XP_011518589.1:p.Ala499=
XM_011520285.2:c.1671C>T	XP_011518587.1:p.Ala557=
XM_017018136.1:c.1698C>T	XP_016873625.1:p.Ala566=
XM_017018137.1:c.1656C>T	XP_016873626.1:p.Ala552=
XM_017018138.1:c.1656C>T	XP_016873627.1:p.Ala552=
XM_017018139.1:c.1449C>T	XP_016873628.1:p.Ala483=
NM_004171.4:c.1683C>T MANE Select	NP_004162.2:p.Ala561=
NM_001195728.3:c.1656C>T	NP_001182657.1:p.Ala552=
NM_001252652.2:c.1656C>T	NP_001239581.1:p.Ala552=