Canonical Allele Identifier: CA280670467

Gene: SLC5A2

Linked Data

• ClinVar Variation Id: 591844
• ClinVar RCV Id: RCV000723026
• dbSNP Id: rs765873464
• gnomAD v3: 16-31488942-A-AG
• gnomAD v4: 16-31488942-A-AG
• MyVariant Identifiers: chr16:g.31500263_31500264insG (hg19) ; chr16:g.31488942_31488943insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488945dup , CM000678.2:g.31488945dup	GRCh38
NC_000016.9:g.31500266dup , CM000678.1:g.31500266dup	GRCh37
NC_000016.8:g.31407767dup	NCBI36
NG_012892.1:g.10828dup
NG_033149.1:g.24477dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1346dup MANE Select	ENSP00000327943.3:p.Gly450ArgfsTer12
ENST00000330498.3:c.1346dup	ENSP00000327943.3:p.Gly450ArgfsTer12
ENST00000419665.6:c.1130-178dup	ENSP00000410601.2:n.1130-178dup
ENST00000568188.1:n.717dup
ENST00000568891.1:n.282-178dup
NM_003041.3:c.1346dup	NP_003032.1:p.Gly450ArgfsTer12
NR_130783.1:n.1149-178dup
XM_006721072.2:c.1367dup	XP_006721135.2:p.Gly457ArgfsTer12
XM_006721073.2:c.1301+173dup	XP_006721136.2:n.1301+173dup
XM_006721072.4:c.1367dup	XP_006721135.2:p.Gly457ArgfsTer12
XM_024450402.1:c.1151-178dup	XP_024306170.1:n.1151-178dup
NM_003041.4:c.1346dup MANE Select	NP_003032.1:p.Gly450ArgfsTer12
NR_130783.2:n.1144-178dup