Canonical Allele Identifier: CA380124652

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282463T>C (hg19) ; chr11:g.35260916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260916T>C , CM000673.2:g.35260916T>C	GRCh38
NC_000011.9:g.35282463T>C , CM000673.1:g.35282463T>C	GRCh37
NC_000011.8:g.35239039T>C	NCBI36
NG_008727.1:g.163643A>G
NG_008727.2:g.163643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1703A>G MANE Select	ENSP00000278379.3:p.Glu568Gly
ENST00000395750.6:c.1691A>G	ENSP00000379099.2:p.Glu564Gly
ENST00000395753.6:c.1676A>G	ENSP00000379102.1:p.Glu559Gly
ENST00000479543.2:n.1255A>G
ENST00000642171.1:c.*85A>G	ENSP00000495538.1:n.*85A>G
ENST00000642448.1:n.1795A>G
ENST00000642769.1:c.969A>G
ENST00000643000.1:c.1676A>G	ENSP00000495164.1:p.Glu559Gly
ENST00000643134.1:c.1690A>G	ENSP00000495188.1:p.Asn564Asp
ENST00000643522.1:c.1469A>G	ENSP00000496375.1:p.Glu490Gly
ENST00000644050.1:c.1676A>G	ENSP00000496123.1:p.Glu559Gly
ENST00000644299.1:c.1676A>G	ENSP00000494669.1:p.Glu559Gly
ENST00000644459.1:c.*195A>G	ENSP00000495861.1:n.*195A>G
ENST00000644779.1:c.1814A>G	ENSP00000494258.1:p.Glu605Gly
ENST00000644868.1:c.1765A>G	ENSP00000496760.1:n.1765A>G
ENST00000645194.1:c.1676A>G	ENSP00000496093.1:p.Glu559Gly
ENST00000645303.1:c.1718A>G	ENSP00000496667.1:p.Glu573Gly
ENST00000645542.1:n.409A>G
ENST00000645634.1:c.1676A>G	ENSP00000493945.1:p.Glu559Gly
ENST00000646080.1:c.1694A>G	ENSP00000494113.1:p.Glu565Gly
ENST00000647076.1:c.444A>G
ENST00000647104.1:c.1676A>G	ENSP00000494025.1:p.Glu559Gly
ENST00000278379.7:c.1703A>G	ENSP00000278379.3:p.Glu568Gly
ENST00000395750.5:c.1676A>G	ENSP00000379099.1:p.Glu559Gly
ENST00000395753.5:c.1676A>G	ENSP00000379102.1:p.Glu559Gly
ENST00000464522.2:c.219+4611A>G	ENSP00000435406.1:n.219+4611A>G
ENST00000479543.1:n.519A>G
NM_001195728.2:c.1676A>G	NP_001182657.1:p.Glu559Gly
NM_001252652.1:c.1676A>G	NP_001239581.1:p.Glu559Gly
NM_004171.3:c.1703A>G	NP_004162.2:p.Glu568Gly
XM_005253067.1:c.1694A>G	XP_005253124.1:p.Glu565Gly
XM_011520284.1:c.1751A>G	XP_011518586.1:p.Glu584Gly
XM_011520285.1:c.1691A>G	XP_011518587.1:p.Glu564Gly
XM_011520286.1:c.1616A>G	XP_011518588.1:p.Glu539Gly
XM_011520287.1:c.1517A>G	XP_011518589.1:p.Glu506Gly
XM_011520285.2:c.1691A>G	XP_011518587.1:p.Glu564Gly
XM_017018136.1:c.1718A>G	XP_016873625.1:p.Glu573Gly
XM_017018137.1:c.1676A>G	XP_016873626.1:p.Glu559Gly
XM_017018138.1:c.1676A>G	XP_016873627.1:p.Glu559Gly
XM_017018139.1:c.1469A>G	XP_016873628.1:p.Glu490Gly
NM_004171.4:c.1703A>G MANE Select	NP_004162.2:p.Glu568Gly
NM_001195728.3:c.1676A>G	NP_001182657.1:p.Glu559Gly
NM_001252652.2:c.1676A>G	NP_001239581.1:p.Glu559Gly