Canonical Allele Identifier: CA395755148

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500274C>G (hg19) ; chr16:g.31488953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488953C>G , CM000678.2:g.31488953C>G	GRCh38
NC_000016.9:g.31500274C>G , CM000678.1:g.31500274C>G	GRCh37
NC_000016.8:g.31407775C>G	NCBI36
NG_012892.1:g.10836C>G
NG_033149.1:g.24467G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1354C>G MANE Select	ENSP00000327943.3:p.Leu452Val
ENST00000330498.3:c.1354C>G	ENSP00000327943.3:p.Leu452Val
ENST00000419665.6:c.1130-170C>G	ENSP00000410601.2:n.1130-170C>G
ENST00000568188.1:n.725C>G
ENST00000568891.1:n.282-170C>G
NM_003041.3:c.1354C>G	NP_003032.1:p.Leu452Val
NR_130783.1:n.1149-170C>G
XM_006721072.2:c.1375C>G	XP_006721135.2:p.Leu459Val
XM_006721073.2:c.1302-170C>G	XP_006721136.2:n.1302-170C>G
XM_006721072.4:c.1375C>G	XP_006721135.2:p.Leu459Val
XM_024450402.1:c.1151-170C>G	XP_024306170.1:n.1151-170C>G
NM_003041.4:c.1354C>G MANE Select	NP_003032.1:p.Leu452Val
NR_130783.2:n.1144-170C>G