Canonical Allele Identifier: CA473548898
Gene: SLC1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.35282442T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35260895T>C , CM000673.2:g.35260895T>C GRCh38
NC_000011.9:g.35282442T>C , CM000673.1:g.35282442T>C GRCh37
NC_000011.8:g.35239018T>C NCBI36
NG_008727.1:g.163664A>G
NG_008727.2:g.163664A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000278379.9:c.1724A>G MANE Select ENSP00000278379.3:p.Ter575=
ENST00000395750.6:c.1712A>G ENSP00000379099.2:p.Ter571=
ENST00000395753.6:c.1697A>G ENSP00000379102.1:p.Ter566=
ENST00000479543.2:n.1276A>G
ENST00000642171.1:c.*106A>G ENSP00000495538.1:n.*106A>G
ENST00000642448.1:n.1816A>G
ENST00000642769.1:c.990A>G
ENST00000643000.1:c.1697A>G ENSP00000495164.1:p.Ter566=
ENST00000643134.1:c.1711A>G ENSP00000495188.1:p.Lys571Glu
ENST00000643522.1:c.1490A>G ENSP00000496375.1:p.Ter497=
ENST00000644050.1:c.1697A>G ENSP00000496123.1:p.Ter566=
ENST00000644299.1:c.1697A>G ENSP00000494669.1:p.Ter566=
ENST00000644459.1:c.*216A>G ENSP00000495861.1:n.*216A>G
ENST00000644779.1:c.1835A>G ENSP00000494258.1:p.Ter612=
ENST00000644868.1:c.1786A>G ENSP00000496760.1:n.1786A>G
ENST00000645194.1:c.1697A>G ENSP00000496093.1:p.Ter566=
ENST00000645303.1:c.1739A>G ENSP00000496667.1:p.Ter580=
ENST00000645542.1:n.430A>G
ENST00000645634.1:c.1697A>G ENSP00000493945.1:p.Ter566=
ENST00000646080.1:c.1715A>G ENSP00000494113.1:p.Ter572=
ENST00000647076.1:c.465A>G
ENST00000647104.1:c.1697A>G ENSP00000494025.1:p.Ter566=
ENST00000278379.7:c.1724A>G ENSP00000278379.3:p.Ter575=
ENST00000395750.5:c.1697A>G ENSP00000379099.1:p.Ter566=
ENST00000395753.5:c.1697A>G ENSP00000379102.1:p.Ter566=
ENST00000464522.2:c.219+4632A>G ENSP00000435406.1:n.219+4632A>G
ENST00000479543.1:n.540A>G
NM_001195728.2:c.1697A>G NP_001182657.1:p.Ter566=
NM_001252652.1:c.1697A>G NP_001239581.1:p.Ter566=
NM_004171.3:c.1724A>G NP_004162.2:p.Ter575=
XM_005253067.1:c.1715A>G XP_005253124.1:p.Ter572=
XM_011520284.1:c.1772A>G XP_011518586.1:p.Ter591=
XM_011520285.1:c.1712A>G XP_011518587.1:p.Ter571=
XM_011520286.1:c.1637A>G XP_011518588.1:p.Ter546=
XM_011520287.1:c.1538A>G XP_011518589.1:p.Ter513=
XM_011520285.2:c.1712A>G XP_011518587.1:p.Ter571=
XM_017018136.1:c.1739A>G XP_016873625.1:p.Ter580=
XM_017018137.1:c.1697A>G XP_016873626.1:p.Ter566=
XM_017018138.1:c.1697A>G XP_016873627.1:p.Ter566=
XM_017018139.1:c.1490A>G XP_016873628.1:p.Ter497=
NM_004171.4:c.1724A>G MANE Select NP_004162.2:p.Ter575=
NM_001195728.3:c.1697A>G NP_001182657.1:p.Ter566=
NM_001252652.2:c.1697A>G NP_001239581.1:p.Ter566=