Canonical Allele Identifier: CA2613103947

Gene: SLC1A2

Linked Data

• gnomAD v4: 11-35260881-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260881G>A , CM000673.2:g.35260881G>A	GRCh38
NC_000011.9:g.35282428G>A , CM000673.1:g.35282428G>A	GRCh37
NC_000011.8:g.35239004G>A	NCBI36
NG_008727.1:g.163678C>T
NG_008727.2:g.163678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.*13C>T MANE Select	ENSP00000278379.3:n.*13C>T
ENST00000395750.6:c.*13C>T	ENSP00000379099.2:n.*13C>T
ENST00000395753.6:c.*13C>T	ENSP00000379102.1:n.*13C>T
ENST00000479543.2:n.1290C>T
ENST00000642171.1:c.*120C>T	ENSP00000495538.1:n.*120C>T
ENST00000642448.1:n.1830C>T
ENST00000642769.1:c.1004C>T
ENST00000643000.1:c.*13C>T	ENSP00000495164.1:n.*13C>T
ENST00000643134.1:c.1725C>T	ENSP00000495188.1:p.Leu575=
ENST00000643522.1:c.*13C>T	ENSP00000496375.1:n.*13C>T
ENST00000644050.1:c.*13C>T	ENSP00000496123.1:n.*13C>T
ENST00000644299.1:c.*13C>T	ENSP00000494669.1:n.*13C>T
ENST00000644459.1:c.*230C>T	ENSP00000495861.1:n.*230C>T
ENST00000644779.1:c.*13C>T	ENSP00000494258.1:n.*13C>T
ENST00000644868.1:c.1800C>T	ENSP00000496760.1:n.1800C>T
ENST00000645194.1:c.*13C>T	ENSP00000496093.1:n.*13C>T
ENST00000645303.1:c.*13C>T	ENSP00000496667.1:n.*13C>T
ENST00000645542.1:n.444C>T
ENST00000645634.1:c.*13C>T	ENSP00000493945.1:n.*13C>T
ENST00000646080.1:c.*13C>T	ENSP00000494113.1:n.*13C>T
ENST00000647076.1:c.479C>T
ENST00000647104.1:c.*13C>T	ENSP00000494025.1:n.*13C>T
ENST00000278379.7:c.*13C>T	ENSP00000278379.3:n.*13C>T
ENST00000395750.5:c.*13C>T	ENSP00000379099.1:n.*13C>T
ENST00000395753.5:c.*13C>T	ENSP00000379102.1:n.*13C>T
ENST00000464522.2:c.219+4646C>T	ENSP00000435406.1:n.219+4646C>T
ENST00000479543.1:n.554C>T
NM_001195728.2:c.*13C>T	NP_001182657.1:n.*13C>T
NM_001252652.1:c.*13C>T	NP_001239581.1:n.*13C>T
NM_004171.3:c.*13C>T	NP_004162.2:n.*13C>T
XM_005253067.1:c.*13C>T	XP_005253124.1:n.*13C>T
XM_011520284.1:c.*13C>T	XP_011518586.1:n.*13C>T
XM_011520285.1:c.*13C>T	XP_011518587.1:n.*13C>T
XM_011520286.1:c.*13C>T	XP_011518588.1:n.*13C>T
XM_011520287.1:c.*13C>T	XP_011518589.1:n.*13C>T
XM_011520285.2:c.*13C>T	XP_011518587.1:n.*13C>T
XM_017018136.1:c.*13C>T	XP_016873625.1:n.*13C>T
XM_017018137.1:c.*13C>T	XP_016873626.1:n.*13C>T
XM_017018138.1:c.*13C>T	XP_016873627.1:n.*13C>T
XM_017018139.1:c.*13C>T	XP_016873628.1:n.*13C>T
NM_004171.4:c.*13C>T MANE Select	NP_004162.2:n.*13C>T
NM_001195728.3:c.*13C>T	NP_001182657.1:n.*13C>T
NM_001252652.2:c.*13C>T	NP_001239581.1:n.*13C>T