Canonical Allele Identifier: CA380124661

Gene: SLC1A2

Linked Data

• gnomAD v4: 11-35260918-T-G
• MyVariant Identifiers: chr11:g.35282465T>G (hg19) ; chr11:g.35260918T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260918T>G , CM000673.2:g.35260918T>G	GRCh38
NC_000011.9:g.35282465T>G , CM000673.1:g.35282465T>G	GRCh37
NC_000011.8:g.35239041T>G	NCBI36
NG_008727.1:g.163641A>C
NG_008727.2:g.163641A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1701A>C MANE Select	ENSP00000278379.3:p.Glu567Asp
ENST00000395750.6:c.1689A>C	ENSP00000379099.2:p.Glu563Asp
ENST00000395753.6:c.1674A>C	ENSP00000379102.1:p.Glu558Asp
ENST00000479543.2:n.1253A>C
ENST00000642171.1:c.*83A>C	ENSP00000495538.1:n.*83A>C
ENST00000642448.1:n.1793A>C
ENST00000642769.1:c.967A>C
ENST00000643000.1:c.1674A>C	ENSP00000495164.1:p.Glu558Asp
ENST00000643134.1:c.1688A>C	ENSP00000495188.1:p.Lys563Thr
ENST00000643522.1:c.1467A>C	ENSP00000496375.1:p.Glu489Asp
ENST00000644050.1:c.1674A>C	ENSP00000496123.1:p.Glu558Asp
ENST00000644299.1:c.1674A>C	ENSP00000494669.1:p.Glu558Asp
ENST00000644459.1:c.*193A>C	ENSP00000495861.1:n.*193A>C
ENST00000644779.1:c.1812A>C	ENSP00000494258.1:p.Glu604Asp
ENST00000644868.1:c.1763A>C	ENSP00000496760.1:n.1763A>C
ENST00000645194.1:c.1674A>C	ENSP00000496093.1:p.Glu558Asp
ENST00000645303.1:c.1716A>C	ENSP00000496667.1:p.Glu572Asp
ENST00000645542.1:n.407A>C
ENST00000645634.1:c.1674A>C	ENSP00000493945.1:p.Glu558Asp
ENST00000646080.1:c.1692A>C	ENSP00000494113.1:p.Glu564Asp
ENST00000647076.1:c.442A>C
ENST00000647104.1:c.1674A>C	ENSP00000494025.1:p.Glu558Asp
ENST00000278379.7:c.1701A>C	ENSP00000278379.3:p.Glu567Asp
ENST00000395750.5:c.1674A>C	ENSP00000379099.1:p.Glu558Asp
ENST00000395753.5:c.1674A>C	ENSP00000379102.1:p.Glu558Asp
ENST00000464522.2:c.219+4609A>C	ENSP00000435406.1:n.219+4609A>C
ENST00000479543.1:n.517A>C
NM_001195728.2:c.1674A>C	NP_001182657.1:p.Glu558Asp
NM_001252652.1:c.1674A>C	NP_001239581.1:p.Glu558Asp
NM_004171.3:c.1701A>C	NP_004162.2:p.Glu567Asp
XM_005253067.1:c.1692A>C	XP_005253124.1:p.Glu564Asp
XM_011520284.1:c.1749A>C	XP_011518586.1:p.Glu583Asp
XM_011520285.1:c.1689A>C	XP_011518587.1:p.Glu563Asp
XM_011520286.1:c.1614A>C	XP_011518588.1:p.Glu538Asp
XM_011520287.1:c.1515A>C	XP_011518589.1:p.Glu505Asp
XM_011520285.2:c.1689A>C	XP_011518587.1:p.Glu563Asp
XM_017018136.1:c.1716A>C	XP_016873625.1:p.Glu572Asp
XM_017018137.1:c.1674A>C	XP_016873626.1:p.Glu558Asp
XM_017018138.1:c.1674A>C	XP_016873627.1:p.Glu558Asp
XM_017018139.1:c.1467A>C	XP_016873628.1:p.Glu489Asp
NM_004171.4:c.1701A>C MANE Select	NP_004162.2:p.Glu567Asp
NM_001195728.3:c.1674A>C	NP_001182657.1:p.Glu558Asp
NM_001252652.2:c.1674A>C	NP_001239581.1:p.Glu558Asp