Canonical Allele Identifier: CA2217073255

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31489017T= , CM000678.2:g.31489017T=	GRCh38
NC_000016.9:g.31500338T= , CM000678.1:g.31500338T=	GRCh37
NC_000016.8:g.31407839T=	NCBI36
NG_012892.1:g.10900T=
NG_033149.1:g.24403A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330498.4:c.1418T= MANE Select	ENSP00000327943.3:p.Leu473=
ENST00000330498.3:c.1418T=	ENSP00000327943.3:p.Leu473=
ENST00000419665.6:c.1130-106T=	ENSP00000410601.2:n.1130-106T=
ENST00000568188.1:n.789T=
ENST00000568891.1:n.282-106T=
NM_003041.3:c.1418T=	NP_003032.1:p.Leu473=
NR_130783.1:n.1149-106T=
XM_006721072.2:c.1439T=	XP_006721135.2:p.Leu480=
XM_006721073.2:c.1302-106T=	XP_006721136.2:n.1302-106T=
XM_006721072.4:c.1439T=	XP_006721135.2:p.Leu480=
XM_024450402.1:c.1151-106T=	XP_024306170.1:n.1151-106T=
NM_003041.4:c.1418T= MANE Select	NP_003032.1:p.Leu473=
NR_130783.2:n.1144-106T=