Canonical Allele Identifier: CA2217073219

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489010T= , CM000678.2:g.31489010T=	GRCh38
NC_000016.9:g.31500331T= , CM000678.1:g.31500331T=	GRCh37
NC_000016.8:g.31407832T=	NCBI36
NG_012892.1:g.10893T=
NG_033149.1:g.24410A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1411T= MANE Select	ENSP00000327943.3:p.Phe471=
ENST00000330498.3:c.1411T=	ENSP00000327943.3:p.Phe471=
ENST00000419665.6:c.1130-113T=	ENSP00000410601.2:n.1130-113T=
ENST00000568188.1:n.782T=
ENST00000568891.1:n.282-113T=
NM_003041.3:c.1411T=	NP_003032.1:p.Phe471=
NR_130783.1:n.1149-113T=
XM_006721072.2:c.1432T=	XP_006721135.2:p.Phe478=
XM_006721073.2:c.1302-113T=	XP_006721136.2:n.1302-113T=
XM_006721072.4:c.1432T=	XP_006721135.2:p.Phe478=
XM_024450402.1:c.1151-113T=	XP_024306170.1:n.1151-113T=
NM_003041.4:c.1411T= MANE Select	NP_003032.1:p.Phe471=
NR_130783.2:n.1144-113T=