Canonical Allele Identifier: CA1963610872
Gene: SLC1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.35260913G= , CM000673.2:g.35260913G= GRCh38
NC_000011.9:g.35282460G= , CM000673.1:g.35282460G= GRCh37
NC_000011.8:g.35239036G= NCBI36
NG_008727.1:g.163646C=
NG_008727.2:g.163646C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000278379.9:c.1706C= MANE Select ENSP00000278379.3:p.Pro569=
ENST00000395750.6:c.1694C= ENSP00000379099.2:p.Pro565=
ENST00000395753.6:c.1679C= ENSP00000379102.1:p.Pro560=
ENST00000479543.2:n.1258C=
ENST00000642171.1:c.*88C= ENSP00000495538.1:n.*88C=
ENST00000642448.1:n.1798C=
ENST00000642769.1:c.972C=
ENST00000643000.1:c.1679C= ENSP00000495164.1:p.Pro560=
ENST00000643134.1:c.1693C= ENSP00000495188.1:p.Leu565=
ENST00000643522.1:c.1472C= ENSP00000496375.1:p.Pro491=
ENST00000644050.1:c.1679C= ENSP00000496123.1:p.Pro560=
ENST00000644299.1:c.1679C= ENSP00000494669.1:p.Pro560=
ENST00000644459.1:c.*198C= ENSP00000495861.1:n.*198C=
ENST00000644779.1:c.1817C= ENSP00000494258.1:p.Pro606=
ENST00000644868.1:c.1768C= ENSP00000496760.1:n.1768C=
ENST00000645194.1:c.1679C= ENSP00000496093.1:p.Pro560=
ENST00000645303.1:c.1721C= ENSP00000496667.1:p.Pro574=
ENST00000645542.1:n.412C=
ENST00000645634.1:c.1679C= ENSP00000493945.1:p.Pro560=
ENST00000646080.1:c.1697C= ENSP00000494113.1:p.Pro566=
ENST00000647076.1:c.447C=
ENST00000647104.1:c.1679C= ENSP00000494025.1:p.Pro560=
ENST00000278379.7:c.1706C= ENSP00000278379.3:p.Pro569=
ENST00000395750.5:c.1679C= ENSP00000379099.1:p.Pro560=
ENST00000395753.5:c.1679C= ENSP00000379102.1:p.Pro560=
ENST00000464522.2:c.219+4614C= ENSP00000435406.1:n.219+4614C=
ENST00000479543.1:n.522C=
NM_001195728.2:c.1679C= NP_001182657.1:p.Pro560=
NM_001252652.1:c.1679C= NP_001239581.1:p.Pro560=
NM_004171.3:c.1706C= NP_004162.2:p.Pro569=
XM_005253067.1:c.1697C= XP_005253124.1:p.Pro566=
XM_011520284.1:c.1754C= XP_011518586.1:p.Pro585=
XM_011520285.1:c.1694C= XP_011518587.1:p.Pro565=
XM_011520286.1:c.1619C= XP_011518588.1:p.Pro540=
XM_011520287.1:c.1520C= XP_011518589.1:p.Pro507=
XM_011520285.2:c.1694C= XP_011518587.1:p.Pro565=
XM_017018136.1:c.1721C= XP_016873625.1:p.Pro574=
XM_017018137.1:c.1679C= XP_016873626.1:p.Pro560=
XM_017018138.1:c.1679C= XP_016873627.1:p.Pro560=
XM_017018139.1:c.1472C= XP_016873628.1:p.Pro491=
NM_004171.4:c.1706C= MANE Select NP_004162.2:p.Pro569=
NM_001195728.3:c.1679C= NP_001182657.1:p.Pro560=
NM_001252652.2:c.1679C= NP_001239581.1:p.Pro560=