Canonical Allele Identifier: CA1963610835

Gene: SLC1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260898T= , CM000673.2:g.35260898T=	GRCh38
NC_000011.9:g.35282445T= , CM000673.1:g.35282445T=	GRCh37
NC_000011.8:g.35239021T=	NCBI36
NG_008727.1:g.163661A=
NG_008727.2:g.163661A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1721A= MANE Select	ENSP00000278379.3:p.Lys574=
ENST00000395750.6:c.1709A=	ENSP00000379099.2:p.Lys570=
ENST00000395753.6:c.1694A=	ENSP00000379102.1:p.Lys565=
ENST00000479543.2:n.1273A=
ENST00000642171.1:c.*103A=	ENSP00000495538.1:n.*103A=
ENST00000642448.1:n.1813A=
ENST00000642769.1:c.987A=
ENST00000643000.1:c.1694A=	ENSP00000495164.1:p.Lys565=
ENST00000643134.1:c.1708A=	ENSP00000495188.1:p.Asn570=
ENST00000643522.1:c.1487A=	ENSP00000496375.1:p.Lys496=
ENST00000644050.1:c.1694A=	ENSP00000496123.1:p.Lys565=
ENST00000644299.1:c.1694A=	ENSP00000494669.1:p.Lys565=
ENST00000644459.1:c.*213A=	ENSP00000495861.1:n.*213A=
ENST00000644779.1:c.1832A=	ENSP00000494258.1:p.Lys611=
ENST00000644868.1:c.1783A=	ENSP00000496760.1:n.1783A=
ENST00000645194.1:c.1694A=	ENSP00000496093.1:p.Lys565=
ENST00000645303.1:c.1736A=	ENSP00000496667.1:p.Lys579=
ENST00000645542.1:n.427A=
ENST00000645634.1:c.1694A=	ENSP00000493945.1:p.Lys565=
ENST00000646080.1:c.1712A=	ENSP00000494113.1:p.Lys571=
ENST00000647076.1:c.462A=
ENST00000647104.1:c.1694A=	ENSP00000494025.1:p.Lys565=
ENST00000278379.7:c.1721A=	ENSP00000278379.3:p.Lys574=
ENST00000395750.5:c.1694A=	ENSP00000379099.1:p.Lys565=
ENST00000395753.5:c.1694A=	ENSP00000379102.1:p.Lys565=
ENST00000464522.2:c.219+4629A=	ENSP00000435406.1:n.219+4629A=
ENST00000479543.1:n.537A=
NM_001195728.2:c.1694A=	NP_001182657.1:p.Lys565=
NM_001252652.1:c.1694A=	NP_001239581.1:p.Lys565=
NM_004171.3:c.1721A=	NP_004162.2:p.Lys574=
XM_005253067.1:c.1712A=	XP_005253124.1:p.Lys571=
XM_011520284.1:c.1769A=	XP_011518586.1:p.Lys590=
XM_011520285.1:c.1709A=	XP_011518587.1:p.Lys570=
XM_011520286.1:c.1634A=	XP_011518588.1:p.Lys545=
XM_011520287.1:c.1535A=	XP_011518589.1:p.Lys512=
XM_011520285.2:c.1709A=	XP_011518587.1:p.Lys570=
XM_017018136.1:c.1736A=	XP_016873625.1:p.Lys579=
XM_017018137.1:c.1694A=	XP_016873626.1:p.Lys565=
XM_017018138.1:c.1694A=	XP_016873627.1:p.Lys565=
XM_017018139.1:c.1487A=	XP_016873628.1:p.Lys496=
NM_004171.4:c.1721A= MANE Select	NP_004162.2:p.Lys574=
NM_001195728.3:c.1694A=	NP_001182657.1:p.Lys565=
NM_001252652.2:c.1694A=	NP_001239581.1:p.Lys565=