Canonical Allele Identifier: CA1963610802
Gene: SLC1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1950382839

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35260872G>A , CM000673.2:g.35260872G>A GRCh38
NC_000011.9:g.35282419G>A , CM000673.1:g.35282419G>A GRCh37
NC_000011.8:g.35238995G>A NCBI36
NG_008727.1:g.163687C>T
NG_008727.2:g.163687C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278379.9:c.*22C>T MANE Select ENSP00000278379.3:n.*22C>T
ENST00000395750.6:c.*22C>T ENSP00000379099.2:n.*22C>T
ENST00000395753.6:c.*22C>T ENSP00000379102.1:n.*22C>T
ENST00000479543.2:n.1299C>T
ENST00000642171.1:c.*129C>T ENSP00000495538.1:n.*129C>T
ENST00000642448.1:n.1839C>T
ENST00000642769.1:c.1013C>T
ENST00000643000.1:c.*22C>T ENSP00000495164.1:n.*22C>T
ENST00000643134.1:c.1734C>T ENSP00000495188.1:p.Phe578=
ENST00000643522.1:c.*22C>T ENSP00000496375.1:n.*22C>T
ENST00000644050.1:c.*22C>T ENSP00000496123.1:n.*22C>T
ENST00000644299.1:c.*22C>T ENSP00000494669.1:n.*22C>T
ENST00000644459.1:c.*239C>T ENSP00000495861.1:n.*239C>T
ENST00000644779.1:c.*22C>T ENSP00000494258.1:n.*22C>T
ENST00000644868.1:c.1809C>T ENSP00000496760.1:n.1809C>T
ENST00000645194.1:c.*22C>T ENSP00000496093.1:n.*22C>T
ENST00000645303.1:c.*22C>T ENSP00000496667.1:n.*22C>T
ENST00000645542.1:n.453C>T
ENST00000645634.1:c.*22C>T ENSP00000493945.1:n.*22C>T
ENST00000646080.1:c.*22C>T ENSP00000494113.1:n.*22C>T
ENST00000647076.1:c.488C>T
ENST00000647104.1:c.*22C>T ENSP00000494025.1:n.*22C>T
ENST00000278379.7:c.*22C>T ENSP00000278379.3:n.*22C>T
ENST00000395750.5:c.*22C>T ENSP00000379099.1:n.*22C>T
ENST00000395753.5:c.*22C>T ENSP00000379102.1:n.*22C>T
ENST00000464522.2:c.219+4655C>T ENSP00000435406.1:n.219+4655C>T
ENST00000479543.1:n.563C>T
NM_001195728.2:c.*22C>T NP_001182657.1:n.*22C>T
NM_001252652.1:c.*22C>T NP_001239581.1:n.*22C>T
NM_004171.3:c.*22C>T NP_004162.2:n.*22C>T
XM_005253067.1:c.*22C>T XP_005253124.1:n.*22C>T
XM_011520284.1:c.*22C>T XP_011518586.1:n.*22C>T
XM_011520285.1:c.*22C>T XP_011518587.1:n.*22C>T
XM_011520286.1:c.*22C>T XP_011518588.1:n.*22C>T
XM_011520287.1:c.*22C>T XP_011518589.1:n.*22C>T
XM_011520285.2:c.*22C>T XP_011518587.1:n.*22C>T
XM_017018136.1:c.*22C>T XP_016873625.1:n.*22C>T
XM_017018137.1:c.*22C>T XP_016873626.1:n.*22C>T
XM_017018138.1:c.*22C>T XP_016873627.1:n.*22C>T
XM_017018139.1:c.*22C>T XP_016873628.1:n.*22C>T
NM_004171.4:c.*22C>T MANE Select NP_004162.2:n.*22C>T
NM_001195728.3:c.*22C>T NP_001182657.1:n.*22C>T
NM_001252652.2:c.*22C>T NP_001239581.1:n.*22C>T