Canonical Allele Identifier: CA395755305

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500335T>G (hg19) ; chr16:g.31489014T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489014T>G , CM000678.2:g.31489014T>G	GRCh38
NC_000016.9:g.31500335T>G , CM000678.1:g.31500335T>G	GRCh37
NC_000016.8:g.31407836T>G	NCBI36
NG_012892.1:g.10897T>G
NG_033149.1:g.24406A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1415T>G MANE Select	ENSP00000327943.3:p.Val472Gly
ENST00000330498.3:c.1415T>G	ENSP00000327943.3:p.Val472Gly
ENST00000419665.6:c.1130-109T>G	ENSP00000410601.2:n.1130-109T>G
ENST00000568188.1:n.786T>G
ENST00000568891.1:n.282-109T>G
NM_003041.3:c.1415T>G	NP_003032.1:p.Val472Gly
NR_130783.1:n.1149-109T>G
XM_006721072.2:c.1436T>G	XP_006721135.2:p.Val479Gly
XM_006721073.2:c.1302-109T>G	XP_006721136.2:n.1302-109T>G
XM_006721072.4:c.1436T>G	XP_006721135.2:p.Val479Gly
XM_024450402.1:c.1151-109T>G	XP_024306170.1:n.1151-109T>G
NM_003041.4:c.1415T>G MANE Select	NP_003032.1:p.Val472Gly
NR_130783.2:n.1144-109T>G