Canonical Allele Identifier: CA473548916
Gene: SLC1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.35282462T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35260915T>C , CM000673.2:g.35260915T>C GRCh38
NC_000011.9:g.35282462T>C , CM000673.1:g.35282462T>C GRCh37
NC_000011.8:g.35239038T>C NCBI36
NG_008727.1:g.163644A>G
NG_008727.2:g.163644A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278379.9:c.1704A>G MANE Select ENSP00000278379.3:p.Glu568=
ENST00000395750.6:c.1692A>G ENSP00000379099.2:p.Glu564=
ENST00000395753.6:c.1677A>G ENSP00000379102.1:p.Glu559=
ENST00000479543.2:n.1256A>G
ENST00000642171.1:c.*86A>G ENSP00000495538.1:n.*86A>G
ENST00000642448.1:n.1796A>G
ENST00000642769.1:c.970A>G
ENST00000643000.1:c.1677A>G ENSP00000495164.1:p.Glu559=
ENST00000643134.1:c.1691A>G ENSP00000495188.1:p.Asn564Ser
ENST00000643522.1:c.1470A>G ENSP00000496375.1:p.Glu490=
ENST00000644050.1:c.1677A>G ENSP00000496123.1:p.Glu559=
ENST00000644299.1:c.1677A>G ENSP00000494669.1:p.Glu559=
ENST00000644459.1:c.*196A>G ENSP00000495861.1:n.*196A>G
ENST00000644779.1:c.1815A>G ENSP00000494258.1:p.Glu605=
ENST00000644868.1:c.1766A>G ENSP00000496760.1:n.1766A>G
ENST00000645194.1:c.1677A>G ENSP00000496093.1:p.Glu559=
ENST00000645303.1:c.1719A>G ENSP00000496667.1:p.Glu573=
ENST00000645542.1:n.410A>G
ENST00000645634.1:c.1677A>G ENSP00000493945.1:p.Glu559=
ENST00000646080.1:c.1695A>G ENSP00000494113.1:p.Glu565=
ENST00000647076.1:c.445A>G
ENST00000647104.1:c.1677A>G ENSP00000494025.1:p.Glu559=
ENST00000278379.7:c.1704A>G ENSP00000278379.3:p.Glu568=
ENST00000395750.5:c.1677A>G ENSP00000379099.1:p.Glu559=
ENST00000395753.5:c.1677A>G ENSP00000379102.1:p.Glu559=
ENST00000464522.2:c.219+4612A>G ENSP00000435406.1:n.219+4612A>G
ENST00000479543.1:n.520A>G
NM_001195728.2:c.1677A>G NP_001182657.1:p.Glu559=
NM_001252652.1:c.1677A>G NP_001239581.1:p.Glu559=
NM_004171.3:c.1704A>G NP_004162.2:p.Glu568=
XM_005253067.1:c.1695A>G XP_005253124.1:p.Glu565=
XM_011520284.1:c.1752A>G XP_011518586.1:p.Glu584=
XM_011520285.1:c.1692A>G XP_011518587.1:p.Glu564=
XM_011520286.1:c.1617A>G XP_011518588.1:p.Glu539=
XM_011520287.1:c.1518A>G XP_011518589.1:p.Glu506=
XM_011520285.2:c.1692A>G XP_011518587.1:p.Glu564=
XM_017018136.1:c.1719A>G XP_016873625.1:p.Glu573=
XM_017018137.1:c.1677A>G XP_016873626.1:p.Glu559=
XM_017018138.1:c.1677A>G XP_016873627.1:p.Glu559=
XM_017018139.1:c.1470A>G XP_016873628.1:p.Glu490=
NM_004171.4:c.1704A>G MANE Select NP_004162.2:p.Glu568=
NM_001195728.3:c.1677A>G NP_001182657.1:p.Glu559=
NM_001252652.2:c.1677A>G NP_001239581.1:p.Glu559=