Canonical Allele Identifier: CA380124593

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282449C>G (hg19) ; chr11:g.35260902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260902C>G , CM000673.2:g.35260902C>G	GRCh38
NC_000011.9:g.35282449C>G , CM000673.1:g.35282449C>G	GRCh37
NC_000011.8:g.35239025C>G	NCBI36
NG_008727.1:g.163657G>C
NG_008727.2:g.163657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1717G>C MANE Select	ENSP00000278379.3:p.Glu573Gln
ENST00000395750.6:c.1705G>C	ENSP00000379099.2:p.Glu569Gln
ENST00000395753.6:c.1690G>C	ENSP00000379102.1:p.Glu564Gln
ENST00000479543.2:n.1269G>C
ENST00000642171.1:c.*99G>C	ENSP00000495538.1:n.*99G>C
ENST00000642448.1:n.1809G>C
ENST00000642769.1:c.983G>C
ENST00000643000.1:c.1690G>C	ENSP00000495164.1:p.Glu564Gln
ENST00000643134.1:c.1704G>C	ENSP00000495188.1:p.Val568=
ENST00000643522.1:c.1483G>C	ENSP00000496375.1:p.Glu495Gln
ENST00000644050.1:c.1690G>C	ENSP00000496123.1:p.Glu564Gln
ENST00000644299.1:c.1690G>C	ENSP00000494669.1:p.Glu564Gln
ENST00000644459.1:c.*209G>C	ENSP00000495861.1:n.*209G>C
ENST00000644779.1:c.1828G>C	ENSP00000494258.1:p.Glu610Gln
ENST00000644868.1:c.1779G>C	ENSP00000496760.1:n.1779G>C
ENST00000645194.1:c.1690G>C	ENSP00000496093.1:p.Glu564Gln
ENST00000645303.1:c.1732G>C	ENSP00000496667.1:p.Glu578Gln
ENST00000645542.1:n.423G>C
ENST00000645634.1:c.1690G>C	ENSP00000493945.1:p.Glu564Gln
ENST00000646080.1:c.1708G>C	ENSP00000494113.1:p.Glu570Gln
ENST00000647076.1:c.458G>C
ENST00000647104.1:c.1690G>C	ENSP00000494025.1:p.Glu564Gln
ENST00000278379.7:c.1717G>C	ENSP00000278379.3:p.Glu573Gln
ENST00000395750.5:c.1690G>C	ENSP00000379099.1:p.Glu564Gln
ENST00000395753.5:c.1690G>C	ENSP00000379102.1:p.Glu564Gln
ENST00000464522.2:c.219+4625G>C	ENSP00000435406.1:n.219+4625G>C
ENST00000479543.1:n.533G>C
NM_001195728.2:c.1690G>C	NP_001182657.1:p.Glu564Gln
NM_001252652.1:c.1690G>C	NP_001239581.1:p.Glu564Gln
NM_004171.3:c.1717G>C	NP_004162.2:p.Glu573Gln
XM_005253067.1:c.1708G>C	XP_005253124.1:p.Glu570Gln
XM_011520284.1:c.1765G>C	XP_011518586.1:p.Glu589Gln
XM_011520285.1:c.1705G>C	XP_011518587.1:p.Glu569Gln
XM_011520286.1:c.1630G>C	XP_011518588.1:p.Glu544Gln
XM_011520287.1:c.1531G>C	XP_011518589.1:p.Glu511Gln
XM_011520285.2:c.1705G>C	XP_011518587.1:p.Glu569Gln
XM_017018136.1:c.1732G>C	XP_016873625.1:p.Glu578Gln
XM_017018137.1:c.1690G>C	XP_016873626.1:p.Glu564Gln
XM_017018138.1:c.1690G>C	XP_016873627.1:p.Glu564Gln
XM_017018139.1:c.1483G>C	XP_016873628.1:p.Glu495Gln
NM_004171.4:c.1717G>C MANE Select	NP_004162.2:p.Glu573Gln
NM_001195728.3:c.1690G>C	NP_001182657.1:p.Glu564Gln
NM_001252652.2:c.1690G>C	NP_001239581.1:p.Glu564Gln