Canonical Allele Identifier: CA380124740

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282482C>G (hg19) ; chr11:g.35260935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260935C>G , CM000673.2:g.35260935C>G	GRCh38
NC_000011.9:g.35282482C>G , CM000673.1:g.35282482C>G	GRCh37
NC_000011.8:g.35239058C>G	NCBI36
NG_008727.1:g.163624G>C
NG_008727.2:g.163624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1684G>C MANE Select	ENSP00000278379.3:p.Asp562His
ENST00000395750.6:c.1672G>C	ENSP00000379099.2:p.Asp558His
ENST00000395753.6:c.1657G>C	ENSP00000379102.1:p.Asp553His
ENST00000479543.2:n.1236G>C
ENST00000642171.1:c.*66G>C	ENSP00000495538.1:n.*66G>C
ENST00000642448.1:n.1776G>C
ENST00000642769.1:c.950G>C
ENST00000643000.1:c.1657G>C	ENSP00000495164.1:p.Asp553His
ENST00000643134.1:c.1671G>C	ENSP00000495188.1:p.Pro557=
ENST00000643522.1:c.1450G>C	ENSP00000496375.1:p.Asp484His
ENST00000644050.1:c.1657G>C	ENSP00000496123.1:p.Asp553His
ENST00000644299.1:c.1657G>C	ENSP00000494669.1:p.Asp553His
ENST00000644459.1:c.*176G>C	ENSP00000495861.1:n.*176G>C
ENST00000644779.1:c.1795G>C	ENSP00000494258.1:p.Asp599His
ENST00000644868.1:c.1746G>C	ENSP00000496760.1:n.1746G>C
ENST00000645194.1:c.1657G>C	ENSP00000496093.1:p.Asp553His
ENST00000645303.1:c.1699G>C	ENSP00000496667.1:p.Asp567His
ENST00000645542.1:n.390G>C
ENST00000645634.1:c.1657G>C	ENSP00000493945.1:p.Asp553His
ENST00000646080.1:c.1675G>C	ENSP00000494113.1:p.Asp559His
ENST00000647076.1:c.425G>C
ENST00000647104.1:c.1657G>C	ENSP00000494025.1:p.Asp553His
ENST00000278379.7:c.1684G>C	ENSP00000278379.3:p.Asp562His
ENST00000395750.5:c.1657G>C	ENSP00000379099.1:p.Asp553His
ENST00000395753.5:c.1657G>C	ENSP00000379102.1:p.Asp553His
ENST00000464522.2:c.219+4592G>C	ENSP00000435406.1:n.219+4592G>C
ENST00000479543.1:n.500G>C
NM_001195728.2:c.1657G>C	NP_001182657.1:p.Asp553His
NM_001252652.1:c.1657G>C	NP_001239581.1:p.Asp553His
NM_004171.3:c.1684G>C	NP_004162.2:p.Asp562His
XM_005253067.1:c.1675G>C	XP_005253124.1:p.Asp559His
XM_011520284.1:c.1732G>C	XP_011518586.1:p.Asp578His
XM_011520285.1:c.1672G>C	XP_011518587.1:p.Asp558His
XM_011520286.1:c.1597G>C	XP_011518588.1:p.Asp533His
XM_011520287.1:c.1498G>C	XP_011518589.1:p.Asp500His
XM_011520285.2:c.1672G>C	XP_011518587.1:p.Asp558His
XM_017018136.1:c.1699G>C	XP_016873625.1:p.Asp567His
XM_017018137.1:c.1657G>C	XP_016873626.1:p.Asp553His
XM_017018138.1:c.1657G>C	XP_016873627.1:p.Asp553His
XM_017018139.1:c.1450G>C	XP_016873628.1:p.Asp484His
NM_004171.4:c.1684G>C MANE Select	NP_004162.2:p.Asp562His
NM_001195728.3:c.1657G>C	NP_001182657.1:p.Asp553His
NM_001252652.2:c.1657G>C	NP_001239581.1:p.Asp553His