Canonical Allele Identifier: CA380124567

Gene: SLC1A2

Linked Data

• gnomAD v4: 11-35260896-A-G
• MyVariant Identifiers: chr11:g.35282443A>G (hg19) ; chr11:g.35260896A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260896A>G , CM000673.2:g.35260896A>G	GRCh38
NC_000011.9:g.35282443A>G , CM000673.1:g.35282443A>G	GRCh37
NC_000011.8:g.35239019A>G	NCBI36
NG_008727.1:g.163663T>C
NG_008727.2:g.163663T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1723T>C MANE Select	ENSP00000278379.3:p.Ter575Gln
ENST00000395750.6:c.1711T>C	ENSP00000379099.2:p.Ter571Gln
ENST00000395753.6:c.1696T>C	ENSP00000379102.1:p.Ter566Gln
ENST00000479543.2:n.1275T>C
ENST00000642171.1:c.*105T>C	ENSP00000495538.1:n.*105T>C
ENST00000642448.1:n.1815T>C
ENST00000642769.1:c.989T>C
ENST00000643000.1:c.1696T>C	ENSP00000495164.1:p.Ter566Gln
ENST00000643134.1:c.1710T>C	ENSP00000495188.1:p.Asn570=
ENST00000643522.1:c.1489T>C	ENSP00000496375.1:p.Ter497Gln
ENST00000644050.1:c.1696T>C	ENSP00000496123.1:p.Ter566Gln
ENST00000644299.1:c.1696T>C	ENSP00000494669.1:p.Ter566Gln
ENST00000644459.1:c.*215T>C	ENSP00000495861.1:n.*215T>C
ENST00000644779.1:c.1834T>C	ENSP00000494258.1:p.Ter612Gln
ENST00000644868.1:c.1785T>C	ENSP00000496760.1:n.1785T>C
ENST00000645194.1:c.1696T>C	ENSP00000496093.1:p.Ter566Gln
ENST00000645303.1:c.1738T>C	ENSP00000496667.1:p.Ter580Gln
ENST00000645542.1:n.429T>C
ENST00000645634.1:c.1696T>C	ENSP00000493945.1:p.Ter566Gln
ENST00000646080.1:c.1714T>C	ENSP00000494113.1:p.Ter572Gln
ENST00000647076.1:c.464T>C
ENST00000647104.1:c.1696T>C	ENSP00000494025.1:p.Ter566Gln
ENST00000278379.7:c.1723T>C	ENSP00000278379.3:p.Ter575Gln
ENST00000395750.5:c.1696T>C	ENSP00000379099.1:p.Ter566Gln
ENST00000395753.5:c.1696T>C	ENSP00000379102.1:p.Ter566Gln
ENST00000464522.2:c.219+4631T>C	ENSP00000435406.1:n.219+4631T>C
ENST00000479543.1:n.539T>C
NM_001195728.2:c.1696T>C	NP_001182657.1:p.Ter566Gln
NM_001252652.1:c.1696T>C	NP_001239581.1:p.Ter566Gln
NM_004171.3:c.1723T>C	NP_004162.2:p.Ter575Gln
XM_005253067.1:c.1714T>C	XP_005253124.1:p.Ter572Gln
XM_011520284.1:c.1771T>C	XP_011518586.1:p.Ter591Gln
XM_011520285.1:c.1711T>C	XP_011518587.1:p.Ter571Gln
XM_011520286.1:c.1636T>C	XP_011518588.1:p.Ter546Gln
XM_011520287.1:c.1537T>C	XP_011518589.1:p.Ter513Gln
XM_011520285.2:c.1711T>C	XP_011518587.1:p.Ter571Gln
XM_017018136.1:c.1738T>C	XP_016873625.1:p.Ter580Gln
XM_017018137.1:c.1696T>C	XP_016873626.1:p.Ter566Gln
XM_017018138.1:c.1696T>C	XP_016873627.1:p.Ter566Gln
XM_017018139.1:c.1489T>C	XP_016873628.1:p.Ter497Gln
NM_004171.4:c.1723T>C MANE Select	NP_004162.2:p.Ter575Gln
NM_001195728.3:c.1696T>C	NP_001182657.1:p.Ter566Gln
NM_001252652.2:c.1696T>C	NP_001239581.1:p.Ter566Gln