Canonical Allele Identifier: CA10586391

Gene: SLC1A2

Linked Data

• ClinVar Variation Id: 254265
• ClinVar RCV Id: RCV000240886
• dbSNP Id: rs886037942
• MyVariant Identifiers: chr11:g.35336636C>G (hg19) ; chr11:g.35315089C>G (hg38)
• PubMed: PMID:23934111 ; PMID:27476654

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35315089C>G , CM000673.2:g.35315089C>G	GRCh38
NC_000011.9:g.35336636C>G , CM000673.1:g.35336636C>G	GRCh37
NC_000011.8:g.35293212C>G	NCBI36
NG_008727.1:g.109470G>C
NG_008727.2:g.109470G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000278379.9:c.244G>C MANE Select	ENSP00000278379.3:p.Gly82Arg
ENST00000395750.6:c.232G>C	ENSP00000379099.2:p.Gly78Arg
ENST00000395753.6:c.217G>C	ENSP00000379102.1:p.Gly73Arg
ENST00000449068.2:c.244G>C	ENSP00000406133.2:p.Gly82Arg
ENST00000531628.2:c.244G>C	ENSP00000436029.2:p.Gly82Arg
ENST00000606205.6:c.244G>C	ENSP00000476124.2:p.Gly82Arg
ENST00000642171.1:c.244G>C	ENSP00000495538.1:p.Gly82Arg
ENST00000642183.1:n.506G>C
ENST00000642224.1:n.533G>C
ENST00000642392.1:n.2517G>C
ENST00000642448.1:n.336G>C
ENST00000642578.1:c.217G>C	ENSP00000494076.1:p.Gly73Arg
ENST00000643000.1:c.217G>C	ENSP00000495164.1:p.Gly73Arg
ENST00000643134.1:c.244G>C	ENSP00000495188.1:p.Gly82Arg
ENST00000643154.1:n.824G>C
ENST00000643305.1:c.244G>C	ENSP00000494828.1:p.Gly82Arg
ENST00000643454.1:c.235G>C	ENSP00000495126.1:p.Gly79Arg
ENST00000643522.1:c.244G>C	ENSP00000496375.1:p.Gly82Arg
ENST00000644050.1:c.217G>C	ENSP00000496123.1:p.Gly73Arg
ENST00000644299.1:c.217G>C	ENSP00000494669.1:p.Gly73Arg
ENST00000644351.1:c.244G>C	ENSP00000496587.1:p.Gly82Arg
ENST00000644459.1:c.244G>C	ENSP00000495861.1:p.Gly82Arg
ENST00000644779.1:c.355G>C	ENSP00000494258.1:p.Gly119Arg
ENST00000644868.1:c.235G>C	ENSP00000496760.1:p.Gly79Arg
ENST00000645194.1:c.217G>C	ENSP00000496093.1:p.Gly73Arg
ENST00000645303.1:c.259G>C	ENSP00000496667.1:p.Gly87Arg
ENST00000645634.1:c.217G>C	ENSP00000493945.1:p.Gly73Arg
ENST00000645659.1:n.92G>C
ENST00000645892.1:n.349G>C
ENST00000646080.1:c.235G>C	ENSP00000494113.1:p.Gly79Arg
ENST00000646099.1:c.232G>C	ENSP00000495799.1:p.Gly78Arg
ENST00000646112.1:n.326G>C
ENST00000646167.1:c.94G>C	ENSP00000495246.1:p.Gly32Arg
ENST00000646585.1:n.399G>C
ENST00000646847.1:c.244G>C	ENSP00000493924.1:p.Gly82Arg
ENST00000647104.1:c.217G>C	ENSP00000494025.1:p.Gly73Arg
ENST00000647372.1:c.217G>C	ENSP00000495277.1:p.Gly73Arg
ENST00000278379.7:c.244G>C	ENSP00000278379.3:p.Gly82Arg
ENST00000395750.5:c.217G>C	ENSP00000379099.1:p.Gly73Arg
ENST00000395753.5:c.217G>C	ENSP00000379102.1:p.Gly73Arg
ENST00000449068.1:c.232G>C	ENSP00000406133.1:p.Gly78Arg
ENST00000606205.5:c.244G>C	ENSP00000476124.1:p.Gly82Arg
NM_001195728.2:c.217G>C	NP_001182657.1:p.Gly73Arg
NM_001252652.1:c.217G>C	NP_001239581.1:p.Gly73Arg
NM_004171.3:c.244G>C	NP_004162.2:p.Gly82Arg
XM_005253067.1:c.235G>C	XP_005253124.1:p.Gly79Arg
XM_011520284.1:c.292G>C	XP_011518586.1:p.Gly98Arg
XM_011520285.1:c.232G>C	XP_011518587.1:p.Gly78Arg
XM_011520286.1:c.292G>C	XP_011518588.1:p.Gly98Arg
XM_011520287.1:c.292G>C	XP_011518589.1:p.Gly98Arg
XM_011520285.2:c.232G>C	XP_011518587.1:p.Gly78Arg
XM_017018136.1:c.259G>C	XP_016873625.1:p.Gly87Arg
XM_017018137.1:c.217G>C	XP_016873626.1:p.Gly73Arg
XM_017018138.1:c.217G>C	XP_016873627.1:p.Gly73Arg
XM_017018139.1:c.244G>C	XP_016873628.1:p.Gly82Arg
NM_004171.4:c.244G>C MANE Select	NP_004162.2:p.Gly82Arg
NM_001195728.3:c.217G>C	NP_001182657.1:p.Gly73Arg
NM_001252652.2:c.217G>C	NP_001239581.1:p.Gly73Arg