Canonical Allele Identifier: CA395755399

Gene: SLC5A2

Linked Data

• gnomAD v4: 16-31489045-G-T
• COSMIC: COSM4060514
• MyVariant Identifiers: chr16:g.31500366G>T (hg19) ; chr16:g.31489045G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489045G>T , CM000678.2:g.31489045G>T	GRCh38
NC_000016.9:g.31500366G>T , CM000678.1:g.31500366G>T	GRCh37
NC_000016.8:g.31407867G>T	NCBI36
NG_012892.1:g.10928G>T
NG_033149.1:g.24375C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330498.4:c.1446G>T MANE Select	ENSP00000327943.3:p.Glu482Asp
ENST00000330498.3:c.1446G>T	ENSP00000327943.3:p.Glu482Asp
ENST00000419665.6:c.1130-78G>T	ENSP00000410601.2:n.1130-78G>T
ENST00000568188.1:n.817G>T
ENST00000568891.1:n.282-78G>T
NM_003041.3:c.1446G>T	NP_003032.1:p.Glu482Asp
NR_130783.1:n.1149-78G>T
XM_006721072.2:c.1467G>T	XP_006721135.2:p.Glu489Asp
XM_006721073.2:c.1302-78G>T	XP_006721136.2:n.1302-78G>T
XM_006721072.4:c.1467G>T	XP_006721135.2:p.Glu489Asp
XM_024450402.1:c.1151-78G>T	XP_024306170.1:n.1151-78G>T
NM_003041.4:c.1446G>T MANE Select	NP_003032.1:p.Glu482Asp
NR_130783.2:n.1144-78G>T