Canonical Allele Identifier: CA2217073227

Gene: SLC5A2

Linked Data

• dbSNP Id: rs2082530276

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489012dup , CM000678.2:g.31489012dup	GRCh38
NC_000016.9:g.31500333dup , CM000678.1:g.31500333dup	GRCh37
NC_000016.8:g.31407834dup	NCBI36
NG_012892.1:g.10895dup
NG_033149.1:g.24408dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1413dup MANE Select	ENSP00000327943.3:p.Val472ArgfsTer10
ENST00000330498.3:c.1413dup	ENSP00000327943.3:p.Val472ArgfsTer10
ENST00000419665.6:c.1130-111dup	ENSP00000410601.2:n.1130-111dup
ENST00000568188.1:n.784dup
ENST00000568891.1:n.282-111dup
NM_003041.3:c.1413dup	NP_003032.1:p.Val472ArgfsTer10
NR_130783.1:n.1149-111dup
XM_006721072.2:c.1434dup	XP_006721135.2:p.Val479ArgfsTer10
XM_006721073.2:c.1302-111dup	XP_006721136.2:n.1302-111dup
XM_006721072.4:c.1434dup	XP_006721135.2:p.Val479ArgfsTer10
XM_024450402.1:c.1151-111dup	XP_024306170.1:n.1151-111dup
NM_003041.4:c.1413dup MANE Select	NP_003032.1:p.Val472ArgfsTer10
NR_130783.2:n.1144-111dup