Canonical Allele Identifier: CA5946988

Gene: SLC1A2

Linked Data

• ClinVar Variation Id: 1439675
• ClinVar RCV Id: RCV001965364
• dbSNP Id: rs760172288
• ExAC: 11:35282452 G / A
• gnomAD v2: 11-35282452-G-A
• gnomAD v3: 11-35260905-G-A
• gnomAD v4: 11-35260905-G-A
• MyVariant Identifiers: chr11:g.35282452G>A (hg19) ; chr11:g.35260905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260905G>A , CM000673.2:g.35260905G>A	GRCh38
NC_000011.9:g.35282452G>A , CM000673.1:g.35282452G>A	GRCh37
NC_000011.8:g.35239028G>A	NCBI36
NG_008727.1:g.163654C>T
NG_008727.2:g.163654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1714C>T MANE Select	ENSP00000278379.3:p.Arg572Cys
ENST00000395750.6:c.1702C>T	ENSP00000379099.2:p.Arg568Cys
ENST00000395753.6:c.1687C>T	ENSP00000379102.1:p.Arg563Cys
ENST00000479543.2:n.1266C>T
ENST00000642171.1:c.*96C>T	ENSP00000495538.1:n.*96C>T
ENST00000642448.1:n.1806C>T
ENST00000642769.1:c.980C>T
ENST00000643000.1:c.1687C>T	ENSP00000495164.1:p.Arg563Cys
ENST00000643134.1:c.1701C>T	ENSP00000495188.1:p.Asn567=
ENST00000643522.1:c.1480C>T	ENSP00000496375.1:p.Arg494Cys
ENST00000644050.1:c.1687C>T	ENSP00000496123.1:p.Arg563Cys
ENST00000644299.1:c.1687C>T	ENSP00000494669.1:p.Arg563Cys
ENST00000644459.1:c.*206C>T	ENSP00000495861.1:n.*206C>T
ENST00000644779.1:c.1825C>T	ENSP00000494258.1:p.Arg609Cys
ENST00000644868.1:c.1776C>T	ENSP00000496760.1:n.1776C>T
ENST00000645194.1:c.1687C>T	ENSP00000496093.1:p.Arg563Cys
ENST00000645303.1:c.1729C>T	ENSP00000496667.1:p.Arg577Cys
ENST00000645542.1:n.420C>T
ENST00000645634.1:c.1687C>T	ENSP00000493945.1:p.Arg563Cys
ENST00000646080.1:c.1705C>T	ENSP00000494113.1:p.Arg569Cys
ENST00000647076.1:c.455C>T
ENST00000647104.1:c.1687C>T	ENSP00000494025.1:p.Arg563Cys
ENST00000278379.7:c.1714C>T	ENSP00000278379.3:p.Arg572Cys
ENST00000395750.5:c.1687C>T	ENSP00000379099.1:p.Arg563Cys
ENST00000395753.5:c.1687C>T	ENSP00000379102.1:p.Arg563Cys
ENST00000464522.2:c.219+4622C>T	ENSP00000435406.1:n.219+4622C>T
ENST00000479543.1:n.530C>T
NM_001195728.2:c.1687C>T	NP_001182657.1:p.Arg563Cys
NM_001252652.1:c.1687C>T	NP_001239581.1:p.Arg563Cys
NM_004171.3:c.1714C>T	NP_004162.2:p.Arg572Cys
XM_005253067.1:c.1705C>T	XP_005253124.1:p.Arg569Cys
XM_011520284.1:c.1762C>T	XP_011518586.1:p.Arg588Cys
XM_011520285.1:c.1702C>T	XP_011518587.1:p.Arg568Cys
XM_011520286.1:c.1627C>T	XP_011518588.1:p.Arg543Cys
XM_011520287.1:c.1528C>T	XP_011518589.1:p.Arg510Cys
XM_011520285.2:c.1702C>T	XP_011518587.1:p.Arg568Cys
XM_017018136.1:c.1729C>T	XP_016873625.1:p.Arg577Cys
XM_017018137.1:c.1687C>T	XP_016873626.1:p.Arg563Cys
XM_017018138.1:c.1687C>T	XP_016873627.1:p.Arg563Cys
XM_017018139.1:c.1480C>T	XP_016873628.1:p.Arg494Cys
NM_004171.4:c.1714C>T MANE Select	NP_004162.2:p.Arg572Cys
NM_001195728.3:c.1687C>T	NP_001182657.1:p.Arg563Cys
NM_001252652.2:c.1687C>T	NP_001239581.1:p.Arg563Cys