Canonical Allele Identifier: CA220525022

Gene: SLC1A2

Linked Data

• dbSNP Id: rs34780937

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260947dup , CM000673.2:g.35260947dup	GRCh38
NC_000011.9:g.35282494dup , CM000673.1:g.35282494dup	GRCh37
NC_000011.8:g.35239070dup	NCBI36
NG_008727.1:g.163613dup
NG_008727.2:g.163613dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1673dup MANE Select	ENSP00000278379.3:p.Ser560ValfsTer7
ENST00000395750.6:c.1661dup	ENSP00000379099.2:p.Ser556ValfsTer7
ENST00000395753.6:c.1646dup	ENSP00000379102.1:p.Ser551ValfsTer7
ENST00000479543.2:n.1225dup
ENST00000642171.1:c.*55dup	ENSP00000495538.1:n.*55dup
ENST00000642448.1:n.1765dup
ENST00000642769.1:c.939dup
ENST00000643000.1:c.1646dup	ENSP00000495164.1:p.Ser551ValfsTer7
ENST00000643134.1:c.1660dup	ENSP00000495188.1:p.Glu554GlyfsTer18
ENST00000643522.1:c.1439dup	ENSP00000496375.1:p.Ser482ValfsTer7
ENST00000644050.1:c.1646dup	ENSP00000496123.1:p.Ser551ValfsTer7
ENST00000644299.1:c.1646dup	ENSP00000494669.1:p.Ser551ValfsTer7
ENST00000644459.1:c.*165dup	ENSP00000495861.1:n.*165dup
ENST00000644779.1:c.1784dup	ENSP00000494258.1:p.Ser597ValfsTer7
ENST00000644868.1:c.1735dup	ENSP00000496760.1:n.1735dup
ENST00000645194.1:c.1646dup	ENSP00000496093.1:p.Ser551ValfsTer7
ENST00000645303.1:c.1688dup	ENSP00000496667.1:p.Ser565ValfsTer7
ENST00000645542.1:n.379dup
ENST00000645634.1:c.1646dup	ENSP00000493945.1:p.Ser551ValfsTer7
ENST00000646080.1:c.1664dup	ENSP00000494113.1:p.Ser557ValfsTer7
ENST00000647076.1:c.414dup
ENST00000647104.1:c.1646dup	ENSP00000494025.1:p.Ser551ValfsTer7
ENST00000278379.7:c.1673dup	ENSP00000278379.3:p.Ser560ValfsTer7
ENST00000395750.5:c.1646dup	ENSP00000379099.1:p.Ser551ValfsTer7
ENST00000395753.5:c.1646dup	ENSP00000379102.1:p.Ser551ValfsTer7
ENST00000464522.2:c.219+4581dup	ENSP00000435406.1:n.219+4581dup
ENST00000479543.1:n.489dup
NM_001195728.2:c.1646dup	NP_001182657.1:p.Ser551ValfsTer7
NM_001252652.1:c.1646dup	NP_001239581.1:p.Ser551ValfsTer7
NM_004171.3:c.1673dup	NP_004162.2:p.Ser560ValfsTer7
XM_005253067.1:c.1664dup	XP_005253124.1:p.Ser557ValfsTer7
XM_011520284.1:c.1721dup	XP_011518586.1:p.Ser576ValfsTer7
XM_011520285.1:c.1661dup	XP_011518587.1:p.Ser556ValfsTer7
XM_011520286.1:c.1586dup	XP_011518588.1:p.Ser531ValfsTer7
XM_011520287.1:c.1487dup	XP_011518589.1:p.Ser498ValfsTer7
XM_011520285.2:c.1661dup	XP_011518587.1:p.Ser556ValfsTer7
XM_017018136.1:c.1688dup	XP_016873625.1:p.Ser565ValfsTer7
XM_017018137.1:c.1646dup	XP_016873626.1:p.Ser551ValfsTer7
XM_017018138.1:c.1646dup	XP_016873627.1:p.Ser551ValfsTer7
XM_017018139.1:c.1439dup	XP_016873628.1:p.Ser482ValfsTer7
NM_004171.4:c.1673dup MANE Select	NP_004162.2:p.Ser560ValfsTer7
NM_001195728.3:c.1646dup	NP_001182657.1:p.Ser551ValfsTer7
NM_001252652.2:c.1646dup	NP_001239581.1:p.Ser551ValfsTer7