Canonical Allele Identifier: CA8031123

Gene: SLC5A2

Linked Data

• ClinVar Variation Id: 992906
• ClinVar RCV Id: RCV001281677 ; RCV002537924
• dbSNP Id: rs750441217
• ExAC: 16:31500308 T / C
• gnomAD v2: 16-31500308-T-C
• gnomAD v4: 16-31488987-T-C
• MyVariant Identifiers: chr16:g.31500308T>C (hg19) ; chr16:g.31488987T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488987T>C , CM000678.2:g.31488987T>C	GRCh38
NC_000016.9:g.31500308T>C , CM000678.1:g.31500308T>C	GRCh37
NC_000016.8:g.31407809T>C	NCBI36
NG_012892.1:g.10870T>C
NG_033149.1:g.24433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1388T>C MANE Select	ENSP00000327943.3:p.Leu463Pro
ENST00000330498.3:c.1388T>C	ENSP00000327943.3:p.Leu463Pro
ENST00000419665.6:c.1130-136T>C	ENSP00000410601.2:n.1130-136T>C
ENST00000568188.1:n.759T>C
ENST00000568891.1:n.282-136T>C
NM_003041.3:c.1388T>C	NP_003032.1:p.Leu463Pro
NR_130783.1:n.1149-136T>C
XM_006721072.2:c.1409T>C	XP_006721135.2:p.Leu470Pro
XM_006721073.2:c.1302-136T>C	XP_006721136.2:n.1302-136T>C
XM_006721072.4:c.1409T>C	XP_006721135.2:p.Leu470Pro
XM_024450402.1:c.1151-136T>C	XP_024306170.1:n.1151-136T>C
NM_003041.4:c.1388T>C MANE Select	NP_003032.1:p.Leu463Pro
NR_130783.2:n.1144-136T>C