Canonical Allele Identifier: CA494936425

Gene: SLC5A2

Linked Data

• dbSNP Id: rs1314948027
• gnomAD v2: 16-31500357-C-T
• gnomAD v3: 16-31489036-C-T
• gnomAD v4: 16-31489036-C-T
• COSMIC: COSM2918423
• MyVariant Identifiers: chr16:g.31500357C>T (hg19) ; chr16:g.31489036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489036C>T , CM000678.2:g.31489036C>T	GRCh38
NC_000016.9:g.31500357C>T , CM000678.1:g.31500357C>T	GRCh37
NC_000016.8:g.31407858C>T	NCBI36
NG_012892.1:g.10919C>T
NG_033149.1:g.24384G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1437C>T MANE Select	ENSP00000327943.3:p.Arg479=
ENST00000330498.3:c.1437C>T	ENSP00000327943.3:p.Arg479=
ENST00000419665.6:c.1130-87C>T	ENSP00000410601.2:n.1130-87C>T
ENST00000568188.1:n.808C>T
ENST00000568891.1:n.282-87C>T
NM_003041.3:c.1437C>T	NP_003032.1:p.Arg479=
NR_130783.1:n.1149-87C>T
XM_006721072.2:c.1458C>T	XP_006721135.2:p.Arg486=
XM_006721073.2:c.1302-87C>T	XP_006721136.2:n.1302-87C>T
XM_006721072.4:c.1458C>T	XP_006721135.2:p.Arg486=
XM_024450402.1:c.1151-87C>T	XP_024306170.1:n.1151-87C>T
NM_003041.4:c.1437C>T MANE Select	NP_003032.1:p.Arg479=
NR_130783.2:n.1144-87C>T