Canonical Allele Identifier: CA494936239

Gene: SLC5A2

Linked Data

• dbSNP Id: rs747891412
• gnomAD v2: 16-31500333-C-T
• gnomAD v3: 16-31489012-C-T
• gnomAD v4: 16-31489012-C-T
• COSMIC: COSM4844353
• MyVariant Identifiers: chr16:g.31500333C>T (hg19) ; chr16:g.31489012C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1413C>T MANE Select	ENSP00000327943.3:p.Phe471=
ENST00000330498.3:c.1413C>T	ENSP00000327943.3:p.Phe471=
ENST00000419665.6:c.1130-111C>T	ENSP00000410601.2:n.1130-111C>T
ENST00000568188.1:n.784C>T
ENST00000568891.1:n.282-111C>T
NM_003041.3:c.1413C>T	NP_003032.1:p.Phe471=
NR_130783.1:n.1149-111C>T
XM_006721072.2:c.1434C>T	XP_006721135.2:p.Phe478=
XM_006721073.2:c.1302-111C>T	XP_006721136.2:n.1302-111C>T
XM_006721072.4:c.1434C>T	XP_006721135.2:p.Phe478=
XM_024450402.1:c.1151-111C>T	XP_024306170.1:n.1151-111C>T
NM_003041.4:c.1413C>T MANE Select	NP_003032.1:p.Phe471=
NR_130783.2:n.1144-111C>T