Canonical Allele Identifier: CA395755138

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500271C>G (hg19) ; chr16:g.31488950C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488950C>G , CM000678.2:g.31488950C>G	GRCh38
NC_000016.9:g.31500271C>G , CM000678.1:g.31500271C>G	GRCh37
NC_000016.8:g.31407772C>G	NCBI36
NG_012892.1:g.10833C>G
NG_033149.1:g.24470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1351C>G MANE Select	ENSP00000327943.3:p.Gln451Glu
ENST00000330498.3:c.1351C>G	ENSP00000327943.3:p.Gln451Glu
ENST00000419665.6:c.1130-173C>G	ENSP00000410601.2:n.1130-173C>G
ENST00000568188.1:n.722C>G
ENST00000568891.1:n.282-173C>G
NM_003041.3:c.1351C>G	NP_003032.1:p.Gln451Glu
NR_130783.1:n.1149-173C>G
XM_006721072.2:c.1372C>G	XP_006721135.2:p.Gln458Glu
XM_006721073.2:c.1302-173C>G	XP_006721136.2:n.1302-173C>G
XM_006721072.4:c.1372C>G	XP_006721135.2:p.Gln458Glu
XM_024450402.1:c.1151-173C>G	XP_024306170.1:n.1151-173C>G
NM_003041.4:c.1351C>G MANE Select	NP_003032.1:p.Gln451Glu
NR_130783.2:n.1144-173C>G