Canonical Allele Identifier: CA380124998

Gene: SLC1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35292446C>A , CM000673.2:g.35292446C>A	GRCh38
NC_000011.9:g.35313993C>A , CM000673.1:g.35313993C>A	GRCh37
NC_000011.8:g.35270569C>A	NCBI36
NG_008727.1:g.132113G>T
NG_008727.2:g.132113G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004171.4:c.932G>T MANE Select	NP_004162.2:p.Arg311Met
ENST00000278379.9:c.932G>T MANE Select	ENSP00000278379.3:p.Arg311Met
NM_001195728.2:c.905G>T	NP_001182657.1:p.Arg302Met
NM_001195728.3:c.905G>T	NP_001182657.1:p.Arg302Met
NM_001252652.1:c.905G>T	NP_001239581.1:p.Arg302Met
NM_001252652.2:c.905G>T	NP_001239581.1:p.Arg302Met
NM_004171.3:c.932G>T	NP_004162.2:p.Arg311Met
ENST00000278379.7:c.932G>T	ENSP00000278379.3:p.Arg311Met
ENST00000395750.5:c.905G>T	ENSP00000379099.1:p.Arg302Met
ENST00000395750.6:c.920G>T	ENSP00000379099.2:p.Arg307Met
ENST00000395753.5:c.905G>T	ENSP00000379102.1:p.Arg302Met
ENST00000395753.6:c.905G>T	ENSP00000379102.1:p.Arg302Met
ENST00000449068.2:c.932G>T	ENSP00000406133.2:p.Arg311Met
ENST00000479543.2:n.484G>T
ENST00000531628.1:c.85G>T
ENST00000531628.2:c.932G>T	ENSP00000436029.2:p.Arg311Met
ENST00000606205.5:c.932G>T	ENSP00000476124.1:p.Arg311Met
ENST00000606205.6:c.932G>T	ENSP00000476124.2:p.Arg311Met
ENST00000642171.1:c.932G>T	ENSP00000495538.1:p.Arg311Met
ENST00000642183.1:n.1120-5495G>T
ENST00000642216.1:n.480G>T
ENST00000642224.1:n.1094G>T
ENST00000642448.1:n.1024G>T
ENST00000642578.1:c.905G>T	ENSP00000494076.1:p.Arg302Met
ENST00000642769.1:c.198G>T
ENST00000643000.1:c.905G>T	ENSP00000495164.1:p.Arg302Met
ENST00000643134.1:c.932G>T	ENSP00000495188.1:p.Arg311Met
ENST00000643154.1:n.1512G>T
ENST00000643305.1:c.932G>T	ENSP00000494828.1:p.Arg311Met
ENST00000643454.1:c.923G>T	ENSP00000495126.1:p.Arg308Met
ENST00000643522.1:c.858-5495G>T	ENSP00000496375.1:n.858-5495G>T
ENST00000644050.1:c.905G>T	ENSP00000496123.1:p.Arg302Met
ENST00000644299.1:c.905G>T	ENSP00000494669.1:p.Arg302Met
ENST00000644351.1:c.932G>T	ENSP00000496587.1:p.Arg311Met
ENST00000644459.1:c.932G>T	ENSP00000495861.1:p.Arg311Met
ENST00000644779.1:c.1043G>T	ENSP00000494258.1:p.Arg348Met
ENST00000644868.1:c.923G>T	ENSP00000496760.1:p.Arg308Met
ENST00000645194.1:c.905G>T	ENSP00000496093.1:p.Arg302Met
ENST00000645303.1:c.947G>T	ENSP00000496667.1:p.Arg316Met
ENST00000645634.1:c.905G>T	ENSP00000493945.1:p.Arg302Met
ENST00000645892.1:n.1037G>T
ENST00000646080.1:c.923G>T	ENSP00000494113.1:p.Arg308Met
ENST00000646099.1:c.920G>T	ENSP00000495799.1:p.Arg307Met
ENST00000646112.1:n.1014G>T
ENST00000646167.1:c.708-5495G>T	ENSP00000495246.1:n.708-5495G>T
ENST00000646585.1:n.1087G>T
ENST00000646847.1:c.932G>T	ENSP00000493924.1:p.Arg311Met
ENST00000647104.1:c.905G>T	ENSP00000494025.1:p.Arg302Met
ENST00000647193.1:n.218-5495G>T
ENST00000647372.1:c.905G>T	ENSP00000495277.1:p.Arg302Met
XM_005253067.1:c.923G>T	XP_005253124.1:p.Arg308Met
XM_011520284.1:c.980G>T	XP_011518586.1:p.Arg327Met
XM_011520285.1:c.920G>T	XP_011518587.1:p.Arg307Met
XM_011520285.2:c.920G>T	XP_011518587.1:p.Arg307Met
XM_011520286.1:c.980G>T	XP_011518588.1:p.Arg327Met
XM_011520287.1:c.906-5495G>T	XP_011518589.1:n.906-5495G>T
XM_017018136.1:c.947G>T	XP_016873625.1:p.Arg316Met
XM_017018137.1:c.905G>T	XP_016873626.1:p.Arg302Met
XM_017018138.1:c.905G>T	XP_016873627.1:p.Arg302Met
XM_017018139.1:c.858-5495G>T	XP_016873628.1:n.858-5495G>T