Canonical Allele Identifier: CA598519462

Gene: SLC1A2

Linked Data

• dbSNP Id: rs1388034620
• gnomAD v2: 11-35308295-C-G
• gnomAD v4: 11-35286748-C-G
• MyVariant Identifiers: chr11:g.35308295C>G (hg19) ; chr11:g.35286748C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35286748C>G , CM000673.2:g.35286748C>G	GRCh38
NC_000011.9:g.35308295C>G , CM000673.1:g.35308295C>G	GRCh37
NC_000011.8:g.35264871C>G	NCBI36
NG_008727.1:g.137811G>C
NG_008727.2:g.137811G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000278379.9:c.1286+9G>C MANE Select	ENSP00000278379.3:n.1286+9G>C
ENST00000395750.6:c.1274+9G>C	ENSP00000379099.2:n.1274+9G>C
ENST00000395753.6:c.1259+9G>C	ENSP00000379102.1:n.1259+9G>C
ENST00000479543.2:n.838+9G>C
ENST00000531628.2:c.1286+9G>C	ENSP00000436029.2:n.1286+9G>C
ENST00000606205.6:c.1286+9G>C	ENSP00000476124.2:n.1286+9G>C
ENST00000642171.1:c.1286+9G>C	ENSP00000495538.1:n.1286+9G>C
ENST00000642216.1:n.843G>C
ENST00000642448.1:n.1378+9G>C
ENST00000642578.1:c.1259+9G>C	ENSP00000494076.1:n.1259+9G>C
ENST00000642769.1:c.552+9G>C
ENST00000643000.1:c.1259+9G>C	ENSP00000495164.1:n.1259+9G>C
ENST00000643134.1:c.1286+9G>C	ENSP00000495188.1:n.1286+9G>C
ENST00000643305.1:c.1286+9G>C	ENSP00000494828.1:n.1286+9G>C
ENST00000643454.1:c.1277+9G>C	ENSP00000495126.1:n.1277+9G>C
ENST00000643522.1:c.1052+9G>C	ENSP00000496375.1:n.1052+9G>C
ENST00000644050.1:c.1259+9G>C	ENSP00000496123.1:n.1259+9G>C
ENST00000644299.1:c.1259+9G>C	ENSP00000494669.1:n.1259+9G>C
ENST00000644351.1:c.1286+9G>C	ENSP00000496587.1:n.1286+9G>C
ENST00000644459.1:c.1286+9G>C	ENSP00000495861.1:n.1286+9G>C
ENST00000644779.1:c.1397+9G>C	ENSP00000494258.1:n.1397+9G>C
ENST00000644868.1:c.1277+9G>C	ENSP00000496760.1:n.1277+9G>C
ENST00000645194.1:c.1259+9G>C	ENSP00000496093.1:n.1259+9G>C
ENST00000645303.1:c.1301+9G>C	ENSP00000496667.1:n.1301+9G>C
ENST00000645634.1:c.1259+9G>C	ENSP00000493945.1:n.1259+9G>C
ENST00000646080.1:c.1277+9G>C	ENSP00000494113.1:n.1277+9G>C
ENST00000646099.1:c.1274+9G>C	ENSP00000495799.1:n.1274+9G>C
ENST00000646167.1:c.902+9G>C	ENSP00000495246.1:n.902+9G>C
ENST00000647076.1:c.162+9G>C
ENST00000647104.1:c.1259+9G>C	ENSP00000494025.1:n.1259+9G>C
ENST00000647193.1:n.421G>C
ENST00000647372.1:c.1259+9G>C	ENSP00000495277.1:n.1259+9G>C
ENST00000278379.7:c.1286+9G>C	ENSP00000278379.3:n.1286+9G>C
ENST00000395750.5:c.1259+9G>C	ENSP00000379099.1:n.1259+9G>C
ENST00000395753.5:c.1259+9G>C	ENSP00000379102.1:n.1259+9G>C
ENST00000479543.1:n.31+9G>C
ENST00000531628.1:c.439+9G>C
ENST00000606205.5:c.1286+9G>C	ENSP00000476124.1:n.1286+9G>C
NM_001195728.2:c.1259+9G>C	NP_001182657.1:n.1259+9G>C
NM_001252652.1:c.1259+9G>C	NP_001239581.1:n.1259+9G>C
NM_004171.3:c.1286+9G>C	NP_004162.2:n.1286+9G>C
XM_005253067.1:c.1277+9G>C	XP_005253124.1:n.1277+9G>C
XM_011520284.1:c.1334+9G>C	XP_011518586.1:n.1334+9G>C
XM_011520285.1:c.1274+9G>C	XP_011518587.1:n.1274+9G>C
XM_011520286.1:c.1334+9G>C	XP_011518588.1:n.1334+9G>C
XM_011520287.1:c.1100+9G>C	XP_011518589.1:n.1100+9G>C
XM_011520285.2:c.1274+9G>C	XP_011518587.1:n.1274+9G>C
XM_017018136.1:c.1301+9G>C	XP_016873625.1:n.1301+9G>C
XM_017018137.1:c.1259+9G>C	XP_016873626.1:n.1259+9G>C
XM_017018138.1:c.1259+9G>C	XP_016873627.1:n.1259+9G>C
XM_017018139.1:c.1052+9G>C	XP_016873628.1:n.1052+9G>C
NM_004171.4:c.1286+9G>C MANE Select	NP_004162.2:n.1286+9G>C
NM_001195728.3:c.1259+9G>C	NP_001182657.1:n.1259+9G>C
NM_001252652.2:c.1259+9G>C	NP_001239581.1:n.1259+9G>C