Canonical Allele Identifier: CA380123219
Gene: SLC1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35286928A>G , CM000673.2:g.35286928A>G GRCh38
NC_000011.9:g.35308475A>G , CM000673.1:g.35308475A>G GRCh37
NC_000011.8:g.35265051A>G NCBI36
NG_008727.1:g.137631T>C
NG_008727.2:g.137631T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000278379.9:c.1115T>C MANE Select ENSP00000278379.3:p.Phe372Ser
ENST00000395750.6:c.1103T>C ENSP00000379099.2:p.Phe368Ser
ENST00000395753.6:c.1088T>C ENSP00000379102.1:p.Phe363Ser
ENST00000449068.2:c.1115T>C ENSP00000406133.2:p.Phe372Ser
ENST00000479543.2:n.667T>C
ENST00000531628.2:c.1115T>C ENSP00000436029.2:p.Phe372Ser
ENST00000606205.6:c.1115T>C ENSP00000476124.2:p.Phe372Ser
ENST00000642171.1:c.1115T>C ENSP00000495538.1:p.Phe372Ser
ENST00000642183.1:n.1143T>C
ENST00000642216.1:n.663T>C
ENST00000642224.1:n.1277T>C
ENST00000642448.1:n.1207T>C
ENST00000642578.1:c.1088T>C ENSP00000494076.1:p.Phe363Ser
ENST00000642769.1:c.381T>C
ENST00000643000.1:c.1088T>C ENSP00000495164.1:p.Phe363Ser
ENST00000643134.1:c.1115T>C ENSP00000495188.1:p.Phe372Ser
ENST00000643305.1:c.1115T>C ENSP00000494828.1:p.Phe372Ser
ENST00000643454.1:c.1106T>C ENSP00000495126.1:p.Phe369Ser
ENST00000643522.1:c.881T>C ENSP00000496375.1:p.Phe294Ser
ENST00000644050.1:c.1088T>C ENSP00000496123.1:p.Phe363Ser
ENST00000644299.1:c.1088T>C ENSP00000494669.1:p.Phe363Ser
ENST00000644351.1:c.1115T>C ENSP00000496587.1:p.Phe372Ser
ENST00000644459.1:c.1115T>C ENSP00000495861.1:p.Phe372Ser
ENST00000644779.1:c.1226T>C ENSP00000494258.1:p.Phe409Ser
ENST00000644868.1:c.1106T>C ENSP00000496760.1:p.Phe369Ser
ENST00000645194.1:c.1088T>C ENSP00000496093.1:p.Phe363Ser
ENST00000645303.1:c.1130T>C ENSP00000496667.1:p.Phe377Ser
ENST00000645634.1:c.1088T>C ENSP00000493945.1:p.Phe363Ser
ENST00000645892.1:n.1220T>C
ENST00000646080.1:c.1106T>C ENSP00000494113.1:p.Phe369Ser
ENST00000646099.1:c.1103T>C ENSP00000495799.1:p.Phe368Ser
ENST00000646167.1:c.731T>C ENSP00000495246.1:p.Phe244Ser
ENST00000646585.1:n.1270T>C
ENST00000646847.1:c.1115T>C ENSP00000493924.1:p.Phe372Ser
ENST00000647104.1:c.1088T>C ENSP00000494025.1:p.Phe363Ser
ENST00000647193.1:n.241T>C
ENST00000647372.1:c.1088T>C ENSP00000495277.1:p.Phe363Ser
ENST00000278379.7:c.1115T>C ENSP00000278379.3:p.Phe372Ser
ENST00000395750.5:c.1088T>C ENSP00000379099.1:p.Phe363Ser
ENST00000395753.5:c.1088T>C ENSP00000379102.1:p.Phe363Ser
ENST00000531628.1:c.268T>C
ENST00000606205.5:c.1115T>C ENSP00000476124.1:p.Phe372Ser
NM_001195728.2:c.1088T>C NP_001182657.1:p.Phe363Ser
NM_001252652.1:c.1088T>C NP_001239581.1:p.Phe363Ser
NM_004171.3:c.1115T>C NP_004162.2:p.Phe372Ser
XM_005253067.1:c.1106T>C XP_005253124.1:p.Phe369Ser
XM_011520284.1:c.1163T>C XP_011518586.1:p.Phe388Ser
XM_011520285.1:c.1103T>C XP_011518587.1:p.Phe368Ser
XM_011520286.1:c.1163T>C XP_011518588.1:p.Phe388Ser
XM_011520287.1:c.929T>C XP_011518589.1:p.Phe310Ser
XM_011520285.2:c.1103T>C XP_011518587.1:p.Phe368Ser
XM_017018136.1:c.1130T>C XP_016873625.1:p.Phe377Ser
XM_017018137.1:c.1088T>C XP_016873626.1:p.Phe363Ser
XM_017018138.1:c.1088T>C XP_016873627.1:p.Phe363Ser
XM_017018139.1:c.881T>C XP_016873628.1:p.Phe294Ser
NM_004171.4:c.1115T>C MANE Select NP_004162.2:p.Phe372Ser
NM_001195728.3:c.1088T>C NP_001182657.1:p.Phe363Ser
NM_001252652.2:c.1088T>C NP_001239581.1:p.Phe363Ser