Canonical Allele Identifier: CA380124634

Gene: SLC1A2

Linked Data

• MyVariant Identifiers: chr11:g.35282460G>C (hg19) ; chr11:g.35260913G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35260913G>C , CM000673.2:g.35260913G>C	GRCh38
NC_000011.9:g.35282460G>C , CM000673.1:g.35282460G>C	GRCh37
NC_000011.8:g.35239036G>C	NCBI36
NG_008727.1:g.163646C>G
NG_008727.2:g.163646C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278379.9:c.1706C>G MANE Select	ENSP00000278379.3:p.Pro569Arg
ENST00000395750.6:c.1694C>G	ENSP00000379099.2:p.Pro565Arg
ENST00000395753.6:c.1679C>G	ENSP00000379102.1:p.Pro560Arg
ENST00000479543.2:n.1258C>G
ENST00000642171.1:c.*88C>G	ENSP00000495538.1:n.*88C>G
ENST00000642448.1:n.1798C>G
ENST00000642769.1:c.972C>G
ENST00000643000.1:c.1679C>G	ENSP00000495164.1:p.Pro560Arg
ENST00000643134.1:c.1693C>G	ENSP00000495188.1:p.Leu565Val
ENST00000643522.1:c.1472C>G	ENSP00000496375.1:p.Pro491Arg
ENST00000644050.1:c.1679C>G	ENSP00000496123.1:p.Pro560Arg
ENST00000644299.1:c.1679C>G	ENSP00000494669.1:p.Pro560Arg
ENST00000644459.1:c.*198C>G	ENSP00000495861.1:n.*198C>G
ENST00000644779.1:c.1817C>G	ENSP00000494258.1:p.Pro606Arg
ENST00000644868.1:c.1768C>G	ENSP00000496760.1:n.1768C>G
ENST00000645194.1:c.1679C>G	ENSP00000496093.1:p.Pro560Arg
ENST00000645303.1:c.1721C>G	ENSP00000496667.1:p.Pro574Arg
ENST00000645542.1:n.412C>G
ENST00000645634.1:c.1679C>G	ENSP00000493945.1:p.Pro560Arg
ENST00000646080.1:c.1697C>G	ENSP00000494113.1:p.Pro566Arg
ENST00000647076.1:c.447C>G
ENST00000647104.1:c.1679C>G	ENSP00000494025.1:p.Pro560Arg
ENST00000278379.7:c.1706C>G	ENSP00000278379.3:p.Pro569Arg
ENST00000395750.5:c.1679C>G	ENSP00000379099.1:p.Pro560Arg
ENST00000395753.5:c.1679C>G	ENSP00000379102.1:p.Pro560Arg
ENST00000464522.2:c.219+4614C>G	ENSP00000435406.1:n.219+4614C>G
ENST00000479543.1:n.522C>G
NM_001195728.2:c.1679C>G	NP_001182657.1:p.Pro560Arg
NM_001252652.1:c.1679C>G	NP_001239581.1:p.Pro560Arg
NM_004171.3:c.1706C>G	NP_004162.2:p.Pro569Arg
XM_005253067.1:c.1697C>G	XP_005253124.1:p.Pro566Arg
XM_011520284.1:c.1754C>G	XP_011518586.1:p.Pro585Arg
XM_011520285.1:c.1694C>G	XP_011518587.1:p.Pro565Arg
XM_011520286.1:c.1619C>G	XP_011518588.1:p.Pro540Arg
XM_011520287.1:c.1520C>G	XP_011518589.1:p.Pro507Arg
XM_011520285.2:c.1694C>G	XP_011518587.1:p.Pro565Arg
XM_017018136.1:c.1721C>G	XP_016873625.1:p.Pro574Arg
XM_017018137.1:c.1679C>G	XP_016873626.1:p.Pro560Arg
XM_017018138.1:c.1679C>G	XP_016873627.1:p.Pro560Arg
XM_017018139.1:c.1472C>G	XP_016873628.1:p.Pro491Arg
NM_004171.4:c.1706C>G MANE Select	NP_004162.2:p.Pro569Arg
NM_001195728.3:c.1679C>G	NP_001182657.1:p.Pro560Arg
NM_001252652.2:c.1679C>G	NP_001239581.1:p.Pro560Arg