Canonical Allele Identifier: CA622174207

Gene: SLC5A2

Linked Data

• dbSNP Id: rs1567391198
• gnomAD v2: 16-31500396-AG-A
• gnomAD v4: 16-31489075-AG-A
• MyVariant Identifiers: chr16:g.31500397del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489078del , CM000678.2:g.31489078del	GRCh38
NC_000016.9:g.31500399del , CM000678.1:g.31500399del	GRCh37
NC_000016.8:g.31407900del	NCBI36
NG_012892.1:g.10961del
NG_033149.1:g.24344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1449+30del MANE Select	ENSP00000327943.3:n.1449+30del
ENST00000330498.3:c.1449+30del	ENSP00000327943.3:n.1449+30del
ENST00000419665.6:c.1130-45del	ENSP00000410601.2:n.1130-45del
ENST00000568188.1:n.820+30del
ENST00000568891.1:n.282-45del
NM_003041.3:c.1449+30del	NP_003032.1:n.1449+30del
NR_130783.1:n.1149-45del
XM_006721072.2:c.1470+30del	XP_006721135.2:n.1470+30del
XM_006721073.2:c.1302-45del	XP_006721136.2:n.1302-45del
XM_006721072.4:c.1470+30del	XP_006721135.2:n.1470+30del
XM_024450402.1:c.1151-45del	XP_024306170.1:n.1151-45del
NM_003041.4:c.1449+30del MANE Select	NP_003032.1:n.1449+30del
NR_130783.2:n.1144-45del