Canonical Allele Identifier: CA936801938

Gene: SLC1A2

Linked Data

• dbSNP Id: rs1950382931
• gnomAD v3: 11-35260876-T-C
• gnomAD v4: 11-35260876-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260876T>C , CM000673.2:g.35260876T>C	GRCh38
NC_000011.9:g.35282423T>C , CM000673.1:g.35282423T>C	GRCh37
NC_000011.8:g.35238999T>C	NCBI36
NG_008727.1:g.163683A>G
NG_008727.2:g.163683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.*18A>G MANE Select	ENSP00000278379.3:n.*18A>G
ENST00000395750.6:c.*18A>G	ENSP00000379099.2:n.*18A>G
ENST00000395753.6:c.*18A>G	ENSP00000379102.1:n.*18A>G
ENST00000479543.2:n.1295A>G
ENST00000642171.1:c.*125A>G	ENSP00000495538.1:n.*125A>G
ENST00000642448.1:n.1835A>G
ENST00000642769.1:c.1009A>G
ENST00000643000.1:c.*18A>G	ENSP00000495164.1:n.*18A>G
ENST00000643134.1:c.1730A>G	ENSP00000495188.1:p.Lys577Arg
ENST00000643522.1:c.*18A>G	ENSP00000496375.1:n.*18A>G
ENST00000644050.1:c.*18A>G	ENSP00000496123.1:n.*18A>G
ENST00000644299.1:c.*18A>G	ENSP00000494669.1:n.*18A>G
ENST00000644459.1:c.*235A>G	ENSP00000495861.1:n.*235A>G
ENST00000644779.1:c.*18A>G	ENSP00000494258.1:n.*18A>G
ENST00000644868.1:c.1805A>G	ENSP00000496760.1:n.1805A>G
ENST00000645194.1:c.*18A>G	ENSP00000496093.1:n.*18A>G
ENST00000645303.1:c.*18A>G	ENSP00000496667.1:n.*18A>G
ENST00000645542.1:n.449A>G
ENST00000645634.1:c.*18A>G	ENSP00000493945.1:n.*18A>G
ENST00000646080.1:c.*18A>G	ENSP00000494113.1:n.*18A>G
ENST00000647076.1:c.484A>G
ENST00000647104.1:c.*18A>G	ENSP00000494025.1:n.*18A>G
ENST00000278379.7:c.*18A>G	ENSP00000278379.3:n.*18A>G
ENST00000395750.5:c.*18A>G	ENSP00000379099.1:n.*18A>G
ENST00000395753.5:c.*18A>G	ENSP00000379102.1:n.*18A>G
ENST00000464522.2:c.219+4651A>G	ENSP00000435406.1:n.219+4651A>G
ENST00000479543.1:n.559A>G
NM_001195728.2:c.*18A>G	NP_001182657.1:n.*18A>G
NM_001252652.1:c.*18A>G	NP_001239581.1:n.*18A>G
NM_004171.3:c.*18A>G	NP_004162.2:n.*18A>G
XM_005253067.1:c.*18A>G	XP_005253124.1:n.*18A>G
XM_011520284.1:c.*18A>G	XP_011518586.1:n.*18A>G
XM_011520285.1:c.*18A>G	XP_011518587.1:n.*18A>G
XM_011520286.1:c.*18A>G	XP_011518588.1:n.*18A>G
XM_011520287.1:c.*18A>G	XP_011518589.1:n.*18A>G
XM_011520285.2:c.*18A>G	XP_011518587.1:n.*18A>G
XM_017018136.1:c.*18A>G	XP_016873625.1:n.*18A>G
XM_017018137.1:c.*18A>G	XP_016873626.1:n.*18A>G
XM_017018138.1:c.*18A>G	XP_016873627.1:n.*18A>G
XM_017018139.1:c.*18A>G	XP_016873628.1:n.*18A>G
NM_004171.4:c.*18A>G MANE Select	NP_004162.2:n.*18A>G
NM_001195728.3:c.*18A>G	NP_001182657.1:n.*18A>G
NM_001252652.2:c.*18A>G	NP_001239581.1:n.*18A>G