Canonical Allele Identifier: CA380124788

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282497T>A (hg19) ; chr11:g.35260950T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260950T>A , CM000673.2:g.35260950T>A	GRCh38
NC_000011.9:g.35282497T>A , CM000673.1:g.35282497T>A	GRCh37
NC_000011.8:g.35239073T>A	NCBI36
NG_008727.1:g.163609A>T
NG_008727.2:g.163609A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1669A>T MANE Select	ENSP00000278379.3:p.Asn557Tyr
ENST00000395750.6:c.1657A>T	ENSP00000379099.2:p.Asn553Tyr
ENST00000395753.6:c.1642A>T	ENSP00000379102.1:p.Asn548Tyr
ENST00000479543.2:n.1221A>T
ENST00000642171.1:c.*51A>T	ENSP00000495538.1:n.*51A>T
ENST00000642448.1:n.1761A>T
ENST00000642769.1:c.935A>T
ENST00000643000.1:c.1642A>T	ENSP00000495164.1:p.Asn548Tyr
ENST00000643134.1:c.1656A>T	ENSP00000495188.1:p.Pro552=
ENST00000643522.1:c.1435A>T	ENSP00000496375.1:p.Asn479Tyr
ENST00000644050.1:c.1642A>T	ENSP00000496123.1:p.Asn548Tyr
ENST00000644299.1:c.1642A>T	ENSP00000494669.1:p.Asn548Tyr
ENST00000644459.1:c.*161A>T	ENSP00000495861.1:n.*161A>T
ENST00000644779.1:c.1780A>T	ENSP00000494258.1:p.Asn594Tyr
ENST00000644868.1:c.1731A>T	ENSP00000496760.1:n.1731A>T
ENST00000645194.1:c.1642A>T	ENSP00000496093.1:p.Asn548Tyr
ENST00000645303.1:c.1684A>T	ENSP00000496667.1:p.Asn562Tyr
ENST00000645542.1:n.375A>T
ENST00000645634.1:c.1642A>T	ENSP00000493945.1:p.Asn548Tyr
ENST00000646080.1:c.1660A>T	ENSP00000494113.1:p.Asn554Tyr
ENST00000647076.1:c.410A>T
ENST00000647104.1:c.1642A>T	ENSP00000494025.1:p.Asn548Tyr
ENST00000278379.7:c.1669A>T	ENSP00000278379.3:p.Asn557Tyr
ENST00000395750.5:c.1642A>T	ENSP00000379099.1:p.Asn548Tyr
ENST00000395753.5:c.1642A>T	ENSP00000379102.1:p.Asn548Tyr
ENST00000464522.2:c.219+4577A>T	ENSP00000435406.1:n.219+4577A>T
ENST00000479543.1:n.485A>T
NM_001195728.2:c.1642A>T	NP_001182657.1:p.Asn548Tyr
NM_001252652.1:c.1642A>T	NP_001239581.1:p.Asn548Tyr
NM_004171.3:c.1669A>T	NP_004162.2:p.Asn557Tyr
XM_005253067.1:c.1660A>T	XP_005253124.1:p.Asn554Tyr
XM_011520284.1:c.1717A>T	XP_011518586.1:p.Asn573Tyr
XM_011520285.1:c.1657A>T	XP_011518587.1:p.Asn553Tyr
XM_011520286.1:c.1582A>T	XP_011518588.1:p.Asn528Tyr
XM_011520287.1:c.1483A>T	XP_011518589.1:p.Asn495Tyr
XM_011520285.2:c.1657A>T	XP_011518587.1:p.Asn553Tyr
XM_017018136.1:c.1684A>T	XP_016873625.1:p.Asn562Tyr
XM_017018137.1:c.1642A>T	XP_016873626.1:p.Asn548Tyr
XM_017018138.1:c.1642A>T	XP_016873627.1:p.Asn548Tyr
XM_017018139.1:c.1435A>T	XP_016873628.1:p.Asn479Tyr
NM_004171.4:c.1669A>T MANE Select	NP_004162.2:p.Asn557Tyr
NM_001195728.3:c.1642A>T	NP_001182657.1:p.Asn548Tyr
NM_001252652.2:c.1642A>T	NP_001239581.1:p.Asn548Tyr