Canonical Allele Identifier: CA2613103938

Gene: SLC1A2

Linked Data

• gnomAD v4: 11-35260869-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260869C>G , CM000673.2:g.35260869C>G	GRCh38
NC_000011.9:g.35282416C>G , CM000673.1:g.35282416C>G	GRCh37
NC_000011.8:g.35238992C>G	NCBI36
NG_008727.1:g.163690G>C
NG_008727.2:g.163690G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.*25G>C MANE Select	ENSP00000278379.3:n.*25G>C
ENST00000395750.6:c.*25G>C	ENSP00000379099.2:n.*25G>C
ENST00000395753.6:c.*25G>C	ENSP00000379102.1:n.*25G>C
ENST00000479543.2:n.1302G>C
ENST00000642171.1:c.*132G>C	ENSP00000495538.1:n.*132G>C
ENST00000642448.1:n.1842G>C
ENST00000642769.1:c.1016G>C
ENST00000643000.1:c.*25G>C	ENSP00000495164.1:n.*25G>C
ENST00000643134.1:c.1737G>C	ENSP00000495188.1:p.Leu579Phe
ENST00000643522.1:c.*25G>C	ENSP00000496375.1:n.*25G>C
ENST00000644050.1:c.*25G>C	ENSP00000496123.1:n.*25G>C
ENST00000644299.1:c.*25G>C	ENSP00000494669.1:n.*25G>C
ENST00000644459.1:c.*242G>C	ENSP00000495861.1:n.*242G>C
ENST00000644779.1:c.*25G>C	ENSP00000494258.1:n.*25G>C
ENST00000644868.1:c.1812G>C	ENSP00000496760.1:n.1812G>C
ENST00000645194.1:c.*25G>C	ENSP00000496093.1:n.*25G>C
ENST00000645303.1:c.*25G>C	ENSP00000496667.1:n.*25G>C
ENST00000645542.1:n.456G>C
ENST00000645634.1:c.*25G>C	ENSP00000493945.1:n.*25G>C
ENST00000646080.1:c.*25G>C	ENSP00000494113.1:n.*25G>C
ENST00000647076.1:c.491G>C
ENST00000647104.1:c.*25G>C	ENSP00000494025.1:n.*25G>C
ENST00000278379.7:c.*25G>C	ENSP00000278379.3:n.*25G>C
ENST00000395750.5:c.*25G>C	ENSP00000379099.1:n.*25G>C
ENST00000395753.5:c.*25G>C	ENSP00000379102.1:n.*25G>C
ENST00000464522.2:c.219+4658G>C	ENSP00000435406.1:n.219+4658G>C
NM_001195728.2:c.*25G>C	NP_001182657.1:n.*25G>C
NM_001252652.1:c.*25G>C	NP_001239581.1:n.*25G>C
NM_004171.3:c.*25G>C	NP_004162.2:n.*25G>C
XM_005253067.1:c.*25G>C	XP_005253124.1:n.*25G>C
XM_011520284.1:c.*25G>C	XP_011518586.1:n.*25G>C
XM_011520285.1:c.*25G>C	XP_011518587.1:n.*25G>C
XM_011520286.1:c.*25G>C	XP_011518588.1:n.*25G>C
XM_011520287.1:c.*25G>C	XP_011518589.1:n.*25G>C
XM_011520285.2:c.*25G>C	XP_011518587.1:n.*25G>C
XM_017018136.1:c.*25G>C	XP_016873625.1:n.*25G>C
XM_017018137.1:c.*25G>C	XP_016873626.1:n.*25G>C
XM_017018138.1:c.*25G>C	XP_016873627.1:n.*25G>C
XM_017018139.1:c.*25G>C	XP_016873628.1:n.*25G>C
NM_004171.4:c.*25G>C MANE Select	NP_004162.2:n.*25G>C
NM_001195728.3:c.*25G>C	NP_001182657.1:n.*25G>C
NM_001252652.2:c.*25G>C	NP_001239581.1:n.*25G>C