Canonical Allele Identifier: CA2217073126

Gene: SLC5A2

Linked Data

• dbSNP Id: rs2082529481

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488977_31488980dup , CM000678.2:g.31488977_31488980dup	GRCh38
NC_000016.9:g.31500298_31500301dup , CM000678.1:g.31500298_31500301dup	GRCh37
NC_000016.8:g.31407799_31407802dup	NCBI36
NG_012892.1:g.10860_10863dup
NG_033149.1:g.24440_24443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1378_1381dup MANE Select	ENSP00000327943.3:p.Ser461IlefsTer2
ENST00000330498.3:c.1378_1381dup	ENSP00000327943.3:p.Ser461IlefsTer2
ENST00000419665.6:c.1130-146_1130-143dup	ENSP00000410601.2:n.1130-146_1130-143dup
ENST00000568188.1:n.749_752dup
ENST00000568891.1:n.282-146_282-143dup
NM_003041.3:c.1378_1381dup	NP_003032.1:p.Ser461IlefsTer2
NR_130783.1:n.1149-146_1149-143dup
XM_006721072.2:c.1399_1402dup	XP_006721135.2:p.Ser468IlefsTer2
XM_006721073.2:c.1302-146_1302-143dup	XP_006721136.2:n.1302-146_1302-143dup
XM_006721072.4:c.1399_1402dup	XP_006721135.2:p.Ser468IlefsTer2
XM_024450402.1:c.1151-146_1151-143dup	XP_024306170.1:n.1151-146_1151-143dup
NM_003041.4:c.1378_1381dup MANE Select	NP_003032.1:p.Ser461IlefsTer2
NR_130783.2:n.1144-146_1144-143dup