Canonical Allele Identifier: CA5946990

Gene: SLC1A2

Linked Data

• dbSNP Id: rs752217517
• ExAC: 11:35282464 C / A
• gnomAD v2: 11-35282464-C-A
• gnomAD v4: 11-35260917-C-A
• MyVariant Identifiers: chr11:g.35282464C>A (hg19) ; chr11:g.35260917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260917C>A , CM000673.2:g.35260917C>A	GRCh38
NC_000011.9:g.35282464C>A , CM000673.1:g.35282464C>A	GRCh37
NC_000011.8:g.35239040C>A	NCBI36
NG_008727.1:g.163642G>T
NG_008727.2:g.163642G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1702G>T MANE Select	ENSP00000278379.3:p.Glu568Ter
ENST00000395750.6:c.1690G>T	ENSP00000379099.2:p.Glu564Ter
ENST00000395753.6:c.1675G>T	ENSP00000379102.1:p.Glu559Ter
ENST00000479543.2:n.1254G>T
ENST00000642171.1:c.*84G>T	ENSP00000495538.1:n.*84G>T
ENST00000642448.1:n.1794G>T
ENST00000642769.1:c.968G>T
ENST00000643000.1:c.1675G>T	ENSP00000495164.1:p.Glu559Ter
ENST00000643134.1:c.1689G>T	ENSP00000495188.1:p.Lys563Asn
ENST00000643522.1:c.1468G>T	ENSP00000496375.1:p.Glu490Ter
ENST00000644050.1:c.1675G>T	ENSP00000496123.1:p.Glu559Ter
ENST00000644299.1:c.1675G>T	ENSP00000494669.1:p.Glu559Ter
ENST00000644459.1:c.*194G>T	ENSP00000495861.1:n.*194G>T
ENST00000644779.1:c.1813G>T	ENSP00000494258.1:p.Glu605Ter
ENST00000644868.1:c.1764G>T	ENSP00000496760.1:n.1764G>T
ENST00000645194.1:c.1675G>T	ENSP00000496093.1:p.Glu559Ter
ENST00000645303.1:c.1717G>T	ENSP00000496667.1:p.Glu573Ter
ENST00000645542.1:n.408G>T
ENST00000645634.1:c.1675G>T	ENSP00000493945.1:p.Glu559Ter
ENST00000646080.1:c.1693G>T	ENSP00000494113.1:p.Glu565Ter
ENST00000647076.1:c.443G>T
ENST00000647104.1:c.1675G>T	ENSP00000494025.1:p.Glu559Ter
ENST00000278379.7:c.1702G>T	ENSP00000278379.3:p.Glu568Ter
ENST00000395750.5:c.1675G>T	ENSP00000379099.1:p.Glu559Ter
ENST00000395753.5:c.1675G>T	ENSP00000379102.1:p.Glu559Ter
ENST00000464522.2:c.219+4610G>T	ENSP00000435406.1:n.219+4610G>T
ENST00000479543.1:n.518G>T
NM_001195728.2:c.1675G>T	NP_001182657.1:p.Glu559Ter
NM_001252652.1:c.1675G>T	NP_001239581.1:p.Glu559Ter
NM_004171.3:c.1702G>T	NP_004162.2:p.Glu568Ter
XM_005253067.1:c.1693G>T	XP_005253124.1:p.Glu565Ter
XM_011520284.1:c.1750G>T	XP_011518586.1:p.Glu584Ter
XM_011520285.1:c.1690G>T	XP_011518587.1:p.Glu564Ter
XM_011520286.1:c.1615G>T	XP_011518588.1:p.Glu539Ter
XM_011520287.1:c.1516G>T	XP_011518589.1:p.Glu506Ter
XM_011520285.2:c.1690G>T	XP_011518587.1:p.Glu564Ter
XM_017018136.1:c.1717G>T	XP_016873625.1:p.Glu573Ter
XM_017018137.1:c.1675G>T	XP_016873626.1:p.Glu559Ter
XM_017018138.1:c.1675G>T	XP_016873627.1:p.Glu559Ter
XM_017018139.1:c.1468G>T	XP_016873628.1:p.Glu490Ter
NM_004171.4:c.1702G>T MANE Select	NP_004162.2:p.Glu568Ter
NM_001195728.3:c.1675G>T	NP_001182657.1:p.Glu559Ter
NM_001252652.2:c.1675G>T	NP_001239581.1:p.Glu559Ter