Canonical Allele Identifier: CA380124730

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282480G>C (hg19) ; chr11:g.35260933G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260933G>C , CM000673.2:g.35260933G>C	GRCh38
NC_000011.9:g.35282480G>C , CM000673.1:g.35282480G>C	GRCh37
NC_000011.8:g.35239056G>C	NCBI36
NG_008727.1:g.163626C>G
NG_008727.2:g.163626C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1686C>G MANE Select	ENSP00000278379.3:p.Asp562Glu
ENST00000395750.6:c.1674C>G	ENSP00000379099.2:p.Asp558Glu
ENST00000395753.6:c.1659C>G	ENSP00000379102.1:p.Asp553Glu
ENST00000479543.2:n.1238C>G
ENST00000642171.1:c.*68C>G	ENSP00000495538.1:n.*68C>G
ENST00000642448.1:n.1778C>G
ENST00000642769.1:c.952C>G
ENST00000643000.1:c.1659C>G	ENSP00000495164.1:p.Asp553Glu
ENST00000643134.1:c.1673C>G	ENSP00000495188.1:p.Thr558Ser
ENST00000643522.1:c.1452C>G	ENSP00000496375.1:p.Asp484Glu
ENST00000644050.1:c.1659C>G	ENSP00000496123.1:p.Asp553Glu
ENST00000644299.1:c.1659C>G	ENSP00000494669.1:p.Asp553Glu
ENST00000644459.1:c.*178C>G	ENSP00000495861.1:n.*178C>G
ENST00000644779.1:c.1797C>G	ENSP00000494258.1:p.Asp599Glu
ENST00000644868.1:c.1748C>G	ENSP00000496760.1:n.1748C>G
ENST00000645194.1:c.1659C>G	ENSP00000496093.1:p.Asp553Glu
ENST00000645303.1:c.1701C>G	ENSP00000496667.1:p.Asp567Glu
ENST00000645542.1:n.392C>G
ENST00000645634.1:c.1659C>G	ENSP00000493945.1:p.Asp553Glu
ENST00000646080.1:c.1677C>G	ENSP00000494113.1:p.Asp559Glu
ENST00000647076.1:c.427C>G
ENST00000647104.1:c.1659C>G	ENSP00000494025.1:p.Asp553Glu
ENST00000278379.7:c.1686C>G	ENSP00000278379.3:p.Asp562Glu
ENST00000395750.5:c.1659C>G	ENSP00000379099.1:p.Asp553Glu
ENST00000395753.5:c.1659C>G	ENSP00000379102.1:p.Asp553Glu
ENST00000464522.2:c.219+4594C>G	ENSP00000435406.1:n.219+4594C>G
ENST00000479543.1:n.502C>G
NM_001195728.2:c.1659C>G	NP_001182657.1:p.Asp553Glu
NM_001252652.1:c.1659C>G	NP_001239581.1:p.Asp553Glu
NM_004171.3:c.1686C>G	NP_004162.2:p.Asp562Glu
XM_005253067.1:c.1677C>G	XP_005253124.1:p.Asp559Glu
XM_011520284.1:c.1734C>G	XP_011518586.1:p.Asp578Glu
XM_011520285.1:c.1674C>G	XP_011518587.1:p.Asp558Glu
XM_011520286.1:c.1599C>G	XP_011518588.1:p.Asp533Glu
XM_011520287.1:c.1500C>G	XP_011518589.1:p.Asp500Glu
XM_011520285.2:c.1674C>G	XP_011518587.1:p.Asp558Glu
XM_017018136.1:c.1701C>G	XP_016873625.1:p.Asp567Glu
XM_017018137.1:c.1659C>G	XP_016873626.1:p.Asp553Glu
XM_017018138.1:c.1659C>G	XP_016873627.1:p.Asp553Glu
XM_017018139.1:c.1452C>G	XP_016873628.1:p.Asp484Glu
NM_004171.4:c.1686C>G MANE Select	NP_004162.2:p.Asp562Glu
NM_001195728.3:c.1659C>G	NP_001182657.1:p.Asp553Glu
NM_001252652.2:c.1659C>G	NP_001239581.1:p.Asp553Glu