Canonical Allele Identifier: CA380124770

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282491T>C (hg19) ; chr11:g.35260944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260944T>C , CM000673.2:g.35260944T>C	GRCh38
NC_000011.9:g.35282491T>C , CM000673.1:g.35282491T>C	GRCh37
NC_000011.8:g.35239067T>C	NCBI36
NG_008727.1:g.163615A>G
NG_008727.2:g.163615A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1675A>G MANE Select	ENSP00000278379.3:p.Lys559Glu
ENST00000395750.6:c.1663A>G	ENSP00000379099.2:p.Lys555Glu
ENST00000395753.6:c.1648A>G	ENSP00000379102.1:p.Lys550Glu
ENST00000479543.2:n.1227A>G
ENST00000642171.1:c.*57A>G	ENSP00000495538.1:n.*57A>G
ENST00000642448.1:n.1767A>G
ENST00000642769.1:c.941A>G
ENST00000643000.1:c.1648A>G	ENSP00000495164.1:p.Lys550Glu
ENST00000643134.1:c.1662A>G	ENSP00000495188.1:p.Glu554=
ENST00000643522.1:c.1441A>G	ENSP00000496375.1:p.Lys481Glu
ENST00000644050.1:c.1648A>G	ENSP00000496123.1:p.Lys550Glu
ENST00000644299.1:c.1648A>G	ENSP00000494669.1:p.Lys550Glu
ENST00000644459.1:c.*167A>G	ENSP00000495861.1:n.*167A>G
ENST00000644779.1:c.1786A>G	ENSP00000494258.1:p.Lys596Glu
ENST00000644868.1:c.1737A>G	ENSP00000496760.1:n.1737A>G
ENST00000645194.1:c.1648A>G	ENSP00000496093.1:p.Lys550Glu
ENST00000645303.1:c.1690A>G	ENSP00000496667.1:p.Lys564Glu
ENST00000645542.1:n.381A>G
ENST00000645634.1:c.1648A>G	ENSP00000493945.1:p.Lys550Glu
ENST00000646080.1:c.1666A>G	ENSP00000494113.1:p.Lys556Glu
ENST00000647076.1:c.416A>G
ENST00000647104.1:c.1648A>G	ENSP00000494025.1:p.Lys550Glu
ENST00000278379.7:c.1675A>G	ENSP00000278379.3:p.Lys559Glu
ENST00000395750.5:c.1648A>G	ENSP00000379099.1:p.Lys550Glu
ENST00000395753.5:c.1648A>G	ENSP00000379102.1:p.Lys550Glu
ENST00000464522.2:c.219+4583A>G	ENSP00000435406.1:n.219+4583A>G
ENST00000479543.1:n.491A>G
NM_001195728.2:c.1648A>G	NP_001182657.1:p.Lys550Glu
NM_001252652.1:c.1648A>G	NP_001239581.1:p.Lys550Glu
NM_004171.3:c.1675A>G	NP_004162.2:p.Lys559Glu
XM_005253067.1:c.1666A>G	XP_005253124.1:p.Lys556Glu
XM_011520284.1:c.1723A>G	XP_011518586.1:p.Lys575Glu
XM_011520285.1:c.1663A>G	XP_011518587.1:p.Lys555Glu
XM_011520286.1:c.1588A>G	XP_011518588.1:p.Lys530Glu
XM_011520287.1:c.1489A>G	XP_011518589.1:p.Lys497Glu
XM_011520285.2:c.1663A>G	XP_011518587.1:p.Lys555Glu
XM_017018136.1:c.1690A>G	XP_016873625.1:p.Lys564Glu
XM_017018137.1:c.1648A>G	XP_016873626.1:p.Lys550Glu
XM_017018138.1:c.1648A>G	XP_016873627.1:p.Lys550Glu
XM_017018139.1:c.1441A>G	XP_016873628.1:p.Lys481Glu
NM_004171.4:c.1675A>G MANE Select	NP_004162.2:p.Lys559Glu
NM_001195728.3:c.1648A>G	NP_001182657.1:p.Lys550Glu
NM_001252652.2:c.1648A>G	NP_001239581.1:p.Lys550Glu