Canonical Allele Identifier: CA936801984

Gene: SLC1A2

Linked Data

• dbSNP Id: rs1950386275
• gnomAD v3: 11-35261006-A-G
• gnomAD v4: 11-35261006-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35261006A>G , CM000673.2:g.35261006A>G	GRCh38
NC_000011.9:g.35282553A>G , CM000673.1:g.35282553A>G	GRCh37
NC_000011.8:g.35239129A>G	NCBI36
NG_008727.1:g.163553T>C
NG_008727.2:g.163553T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1654-41T>C MANE Select	ENSP00000278379.3:n.1654-41T>C
ENST00000395750.6:c.1642-41T>C	ENSP00000379099.2:n.1642-41T>C
ENST00000395753.6:c.1627-41T>C	ENSP00000379102.1:n.1627-41T>C
ENST00000479543.2:n.1206-41T>C
ENST00000642171.1:c.*36-41T>C	ENSP00000495538.1:n.*36-41T>C
ENST00000642448.1:n.1746-41T>C
ENST00000642769.1:c.920-41T>C
ENST00000643000.1:c.1627-41T>C	ENSP00000495164.1:n.1627-41T>C
ENST00000643134.1:c.1654-54T>C	ENSP00000495188.1:n.1654-54T>C
ENST00000643522.1:c.1420-41T>C	ENSP00000496375.1:n.1420-41T>C
ENST00000644050.1:c.1627-41T>C	ENSP00000496123.1:n.1627-41T>C
ENST00000644299.1:c.1627-41T>C	ENSP00000494669.1:n.1627-41T>C
ENST00000644459.1:c.*146-41T>C	ENSP00000495861.1:n.*146-41T>C
ENST00000644779.1:c.1765-41T>C	ENSP00000494258.1:n.1765-41T>C
ENST00000644868.1:c.1716-41T>C	ENSP00000496760.1:n.1716-41T>C
ENST00000645194.1:c.1627-41T>C	ENSP00000496093.1:n.1627-41T>C
ENST00000645303.1:c.1669-41T>C	ENSP00000496667.1:n.1669-41T>C
ENST00000645542.1:n.360-41T>C
ENST00000645634.1:c.1627-41T>C	ENSP00000493945.1:n.1627-41T>C
ENST00000646080.1:c.1645-41T>C	ENSP00000494113.1:n.1645-41T>C
ENST00000647076.1:c.395-41T>C
ENST00000647104.1:c.1627-41T>C	ENSP00000494025.1:n.1627-41T>C
ENST00000278379.7:c.1654-41T>C	ENSP00000278379.3:n.1654-41T>C
ENST00000395750.5:c.1627-41T>C	ENSP00000379099.1:n.1627-41T>C
ENST00000395753.5:c.1627-41T>C	ENSP00000379102.1:n.1627-41T>C
ENST00000464522.2:c.219+4521T>C	ENSP00000435406.1:n.219+4521T>C
ENST00000479543.1:n.470-41T>C
NM_001195728.2:c.1627-41T>C	NP_001182657.1:n.1627-41T>C
NM_001252652.1:c.1627-41T>C	NP_001239581.1:n.1627-41T>C
NM_004171.3:c.1654-41T>C	NP_004162.2:n.1654-41T>C
XM_005253067.1:c.1645-41T>C	XP_005253124.1:n.1645-41T>C
XM_011520284.1:c.1702-41T>C	XP_011518586.1:n.1702-41T>C
XM_011520285.1:c.1642-41T>C	XP_011518587.1:n.1642-41T>C
XM_011520286.1:c.1567-41T>C	XP_011518588.1:n.1567-41T>C
XM_011520287.1:c.1468-41T>C	XP_011518589.1:n.1468-41T>C
XM_011520285.2:c.1642-41T>C	XP_011518587.1:n.1642-41T>C
XM_017018136.1:c.1669-41T>C	XP_016873625.1:n.1669-41T>C
XM_017018137.1:c.1627-41T>C	XP_016873626.1:n.1627-41T>C
XM_017018138.1:c.1627-41T>C	XP_016873627.1:n.1627-41T>C
XM_017018139.1:c.1420-41T>C	XP_016873628.1:n.1420-41T>C
NM_004171.4:c.1654-41T>C MANE Select	NP_004162.2:n.1654-41T>C
NM_001195728.3:c.1627-41T>C	NP_001182657.1:n.1627-41T>C
NM_001252652.2:c.1627-41T>C	NP_001239581.1:n.1627-41T>C