Canonical Allele Identifier: CA5947008

Gene: SLC1A2

Linked Data

• dbSNP Id: rs759293157
• ExAC: 11:35282558 G / GA
• gnomAD v2: 11-35282558-G-GA
• gnomAD v3: 11-35261011-G-GA
• gnomAD v4: 11-35261011-G-GA
• MyVariant Identifiers: chr11:g.35282558_35282559insA (hg19) ; chr11:g.35261011_35261012insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35261017dup , CM000673.2:g.35261017dup	GRCh38
NC_000011.9:g.35282564dup , CM000673.1:g.35282564dup	GRCh37
NC_000011.8:g.35239140dup	NCBI36
NG_008727.1:g.163547dup
NG_008727.2:g.163547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1654-47dup MANE Select	ENSP00000278379.3:n.1654-47dup
ENST00000395750.6:c.1642-47dup	ENSP00000379099.2:n.1642-47dup
ENST00000395753.6:c.1627-47dup	ENSP00000379102.1:n.1627-47dup
ENST00000479543.2:n.1206-47dup
ENST00000642171.1:c.*36-47dup	ENSP00000495538.1:n.*36-47dup
ENST00000642448.1:n.1746-47dup
ENST00000642769.1:c.920-47dup
ENST00000643000.1:c.1627-47dup	ENSP00000495164.1:n.1627-47dup
ENST00000643134.1:c.1654-60dup	ENSP00000495188.1:n.1654-60dup
ENST00000643522.1:c.1420-47dup	ENSP00000496375.1:n.1420-47dup
ENST00000644050.1:c.1627-47dup	ENSP00000496123.1:n.1627-47dup
ENST00000644299.1:c.1627-47dup	ENSP00000494669.1:n.1627-47dup
ENST00000644459.1:c.*146-47dup	ENSP00000495861.1:n.*146-47dup
ENST00000644779.1:c.1765-47dup	ENSP00000494258.1:n.1765-47dup
ENST00000644868.1:c.1716-47dup	ENSP00000496760.1:n.1716-47dup
ENST00000645194.1:c.1627-47dup	ENSP00000496093.1:n.1627-47dup
ENST00000645303.1:c.1669-47dup	ENSP00000496667.1:n.1669-47dup
ENST00000645542.1:n.360-47dup
ENST00000645634.1:c.1627-47dup	ENSP00000493945.1:n.1627-47dup
ENST00000646080.1:c.1645-47dup	ENSP00000494113.1:n.1645-47dup
ENST00000647076.1:c.395-47dup
ENST00000647104.1:c.1627-47dup	ENSP00000494025.1:n.1627-47dup
ENST00000278379.7:c.1654-47dup	ENSP00000278379.3:n.1654-47dup
ENST00000395750.5:c.1627-47dup	ENSP00000379099.1:n.1627-47dup
ENST00000395753.5:c.1627-47dup	ENSP00000379102.1:n.1627-47dup
ENST00000464522.2:c.219+4515dup	ENSP00000435406.1:n.219+4515dup
ENST00000479543.1:n.470-47dup
NM_001195728.2:c.1627-47dup	NP_001182657.1:n.1627-47dup
NM_001252652.1:c.1627-47dup	NP_001239581.1:n.1627-47dup
NM_004171.3:c.1654-47dup	NP_004162.2:n.1654-47dup
XM_005253067.1:c.1645-47dup	XP_005253124.1:n.1645-47dup
XM_011520284.1:c.1702-47dup	XP_011518586.1:n.1702-47dup
XM_011520285.1:c.1642-47dup	XP_011518587.1:n.1642-47dup
XM_011520286.1:c.1567-47dup	XP_011518588.1:n.1567-47dup
XM_011520287.1:c.1468-47dup	XP_011518589.1:n.1468-47dup
XM_011520285.2:c.1642-47dup	XP_011518587.1:n.1642-47dup
XM_017018136.1:c.1669-47dup	XP_016873625.1:n.1669-47dup
XM_017018137.1:c.1627-47dup	XP_016873626.1:n.1627-47dup
XM_017018138.1:c.1627-47dup	XP_016873627.1:n.1627-47dup
XM_017018139.1:c.1420-47dup	XP_016873628.1:n.1420-47dup
NM_004171.4:c.1654-47dup MANE Select	NP_004162.2:n.1654-47dup
NM_001195728.3:c.1627-47dup	NP_001182657.1:n.1627-47dup
NM_001252652.2:c.1627-47dup	NP_001239581.1:n.1627-47dup