Canonical Allele Identifier: CA380124761

Gene: SLC1A2

Linked Data

• ClinVar Variation Id: 2089684
• ClinVar RCV Id: RCV003020532
• MyVariant Identifiers: chr11:g.35282488A>G (hg19) ; chr11:g.35260941A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260941A>G , CM000673.2:g.35260941A>G	GRCh38
NC_000011.9:g.35282488A>G , CM000673.1:g.35282488A>G	GRCh37
NC_000011.8:g.35239064A>G	NCBI36
NG_008727.1:g.163618T>C
NG_008727.2:g.163618T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1678T>C MANE Select	ENSP00000278379.3:p.Ser560Pro
ENST00000395750.6:c.1666T>C	ENSP00000379099.2:p.Ser556Pro
ENST00000395753.6:c.1651T>C	ENSP00000379102.1:p.Ser551Pro
ENST00000479543.2:n.1230T>C
ENST00000642171.1:c.*60T>C	ENSP00000495538.1:n.*60T>C
ENST00000642448.1:n.1770T>C
ENST00000642769.1:c.944T>C
ENST00000643000.1:c.1651T>C	ENSP00000495164.1:p.Ser551Pro
ENST00000643134.1:c.1665T>C	ENSP00000495188.1:p.Ser555=
ENST00000643522.1:c.1444T>C	ENSP00000496375.1:p.Ser482Pro
ENST00000644050.1:c.1651T>C	ENSP00000496123.1:p.Ser551Pro
ENST00000644299.1:c.1651T>C	ENSP00000494669.1:p.Ser551Pro
ENST00000644459.1:c.*170T>C	ENSP00000495861.1:n.*170T>C
ENST00000644779.1:c.1789T>C	ENSP00000494258.1:p.Ser597Pro
ENST00000644868.1:c.1740T>C	ENSP00000496760.1:n.1740T>C
ENST00000645194.1:c.1651T>C	ENSP00000496093.1:p.Ser551Pro
ENST00000645303.1:c.1693T>C	ENSP00000496667.1:p.Ser565Pro
ENST00000645542.1:n.384T>C
ENST00000645634.1:c.1651T>C	ENSP00000493945.1:p.Ser551Pro
ENST00000646080.1:c.1669T>C	ENSP00000494113.1:p.Ser557Pro
ENST00000647076.1:c.419T>C
ENST00000647104.1:c.1651T>C	ENSP00000494025.1:p.Ser551Pro
ENST00000278379.7:c.1678T>C	ENSP00000278379.3:p.Ser560Pro
ENST00000395750.5:c.1651T>C	ENSP00000379099.1:p.Ser551Pro
ENST00000395753.5:c.1651T>C	ENSP00000379102.1:p.Ser551Pro
ENST00000464522.2:c.219+4586T>C	ENSP00000435406.1:n.219+4586T>C
ENST00000479543.1:n.494T>C
NM_001195728.2:c.1651T>C	NP_001182657.1:p.Ser551Pro
NM_001252652.1:c.1651T>C	NP_001239581.1:p.Ser551Pro
NM_004171.3:c.1678T>C	NP_004162.2:p.Ser560Pro
XM_005253067.1:c.1669T>C	XP_005253124.1:p.Ser557Pro
XM_011520284.1:c.1726T>C	XP_011518586.1:p.Ser576Pro
XM_011520285.1:c.1666T>C	XP_011518587.1:p.Ser556Pro
XM_011520286.1:c.1591T>C	XP_011518588.1:p.Ser531Pro
XM_011520287.1:c.1492T>C	XP_011518589.1:p.Ser498Pro
XM_011520285.2:c.1666T>C	XP_011518587.1:p.Ser556Pro
XM_017018136.1:c.1693T>C	XP_016873625.1:p.Ser565Pro
XM_017018137.1:c.1651T>C	XP_016873626.1:p.Ser551Pro
XM_017018138.1:c.1651T>C	XP_016873627.1:p.Ser551Pro
XM_017018139.1:c.1444T>C	XP_016873628.1:p.Ser482Pro
NM_004171.4:c.1678T>C MANE Select	NP_004162.2:p.Ser560Pro
NM_001195728.3:c.1651T>C	NP_001182657.1:p.Ser551Pro
NM_001252652.2:c.1651T>C	NP_001239581.1:p.Ser551Pro