Canonical Allele Identifier: CA395755454

Gene: SLC5A2

Linked Data

• MyVariant Identifiers: chr16:g.31500444G>A (hg19) ; chr16:g.31489123G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489123G>A , CM000678.2:g.31489123G>A	GRCh38
NC_000016.9:g.31500444G>A , CM000678.1:g.31500444G>A	GRCh37
NC_000016.8:g.31407945G>A	NCBI36
NG_012892.1:g.11006G>A
NG_033149.1:g.24297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1450G>A MANE Select	ENSP00000327943.3:p.Gly484Ser
ENST00000330498.3:c.1450G>A	ENSP00000327943.3:p.Gly484Ser
ENST00000419665.6:c.1130G>A	ENSP00000410601.2:p.Gly377Glu
ENST00000568188.1:n.821G>A
ENST00000568891.1:n.282G>A
NM_003041.3:c.1450G>A	NP_003032.1:p.Gly484Ser
NR_130783.1:n.1149G>A
XM_006721072.2:c.1471G>A	XP_006721135.2:p.Gly491Ser
XM_006721073.2:c.1302G>A	XP_006721136.2:p.Arg434=
XM_006721072.4:c.1471G>A	XP_006721135.2:p.Gly491Ser
XM_024450402.1:c.1151G>A	XP_024306170.1:p.Gly384Glu
NM_003041.4:c.1450G>A MANE Select	NP_003032.1:p.Gly484Ser
NR_130783.2:n.1144G>A