Canonical Allele Identifier: CA2217073277

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489025T= , CM000678.2:g.31489025T=	GRCh38
NC_000016.9:g.31500346T= , CM000678.1:g.31500346T=	GRCh37
NC_000016.8:g.31407847T=	NCBI36
NG_012892.1:g.10908T=
NG_033149.1:g.24395A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1426T= MANE Select	ENSP00000327943.3:p.Phe476=
ENST00000330498.3:c.1426T=	ENSP00000327943.3:p.Phe476=
ENST00000419665.6:c.1130-98T=	ENSP00000410601.2:n.1130-98T=
ENST00000568188.1:n.797T=
ENST00000568891.1:n.282-98T=
NM_003041.3:c.1426T=	NP_003032.1:p.Phe476=
NR_130783.1:n.1149-98T=
XM_006721072.2:c.1447T=	XP_006721135.2:p.Phe483=
XM_006721073.2:c.1302-98T=	XP_006721136.2:n.1302-98T=
XM_006721072.4:c.1447T=	XP_006721135.2:p.Phe483=
XM_024450402.1:c.1151-98T=	XP_024306170.1:n.1151-98T=
NM_003041.4:c.1426T= MANE Select	NP_003032.1:p.Phe476=
NR_130783.2:n.1144-98T=