Canonical Allele Identifier: CA1963610946

Gene: SLC1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260949T= , CM000673.2:g.35260949T=	GRCh38
NC_000011.9:g.35282496T= , CM000673.1:g.35282496T=	GRCh37
NC_000011.8:g.35239072T=	NCBI36
NG_008727.1:g.163610A=
NG_008727.2:g.163610A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1670A= MANE Select	ENSP00000278379.3:p.Asn557=
ENST00000395750.6:c.1658A=	ENSP00000379099.2:p.Asn553=
ENST00000395753.6:c.1643A=	ENSP00000379102.1:p.Asn548=
ENST00000479543.2:n.1222A=
ENST00000642171.1:c.*52A=	ENSP00000495538.1:n.*52A=
ENST00000642448.1:n.1762A=
ENST00000642769.1:c.936A=
ENST00000643000.1:c.1643A=	ENSP00000495164.1:p.Asn548=
ENST00000643134.1:c.1657A=	ENSP00000495188.1:p.Met553=
ENST00000643522.1:c.1436A=	ENSP00000496375.1:p.Asn479=
ENST00000644050.1:c.1643A=	ENSP00000496123.1:p.Asn548=
ENST00000644299.1:c.1643A=	ENSP00000494669.1:p.Asn548=
ENST00000644459.1:c.*162A=	ENSP00000495861.1:n.*162A=
ENST00000644779.1:c.1781A=	ENSP00000494258.1:p.Asn594=
ENST00000644868.1:c.1732A=	ENSP00000496760.1:n.1732A=
ENST00000645194.1:c.1643A=	ENSP00000496093.1:p.Asn548=
ENST00000645303.1:c.1685A=	ENSP00000496667.1:p.Asn562=
ENST00000645542.1:n.376A=
ENST00000645634.1:c.1643A=	ENSP00000493945.1:p.Asn548=
ENST00000646080.1:c.1661A=	ENSP00000494113.1:p.Asn554=
ENST00000647076.1:c.411A=
ENST00000647104.1:c.1643A=	ENSP00000494025.1:p.Asn548=
ENST00000278379.7:c.1670A=	ENSP00000278379.3:p.Asn557=
ENST00000395750.5:c.1643A=	ENSP00000379099.1:p.Asn548=
ENST00000395753.5:c.1643A=	ENSP00000379102.1:p.Asn548=
ENST00000464522.2:c.219+4578A=	ENSP00000435406.1:n.219+4578A=
ENST00000479543.1:n.486A=
NM_001195728.2:c.1643A=	NP_001182657.1:p.Asn548=
NM_001252652.1:c.1643A=	NP_001239581.1:p.Asn548=
NM_004171.3:c.1670A=	NP_004162.2:p.Asn557=
XM_005253067.1:c.1661A=	XP_005253124.1:p.Asn554=
XM_011520284.1:c.1718A=	XP_011518586.1:p.Asn573=
XM_011520285.1:c.1658A=	XP_011518587.1:p.Asn553=
XM_011520286.1:c.1583A=	XP_011518588.1:p.Asn528=
XM_011520287.1:c.1484A=	XP_011518589.1:p.Asn495=
XM_011520285.2:c.1658A=	XP_011518587.1:p.Asn553=
XM_017018136.1:c.1685A=	XP_016873625.1:p.Asn562=
XM_017018137.1:c.1643A=	XP_016873626.1:p.Asn548=
XM_017018138.1:c.1643A=	XP_016873627.1:p.Asn548=
XM_017018139.1:c.1436A=	XP_016873628.1:p.Asn479=
NM_004171.4:c.1670A= MANE Select	NP_004162.2:p.Asn557=
NM_001195728.3:c.1643A=	NP_001182657.1:p.Asn548=
NM_001252652.2:c.1643A=	NP_001239581.1:p.Asn548=