Canonical Allele Identifier: CA2217072967

Gene: SLC5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31488919G= , CM000678.2:g.31488919G=	GRCh38
NC_000016.9:g.31500240G= , CM000678.1:g.31500240G=	GRCh37
NC_000016.8:g.31407741G=	NCBI36
NG_012892.1:g.10802G=
NG_033149.1:g.24501C=

Transcript Alleles

HGVS	Amino-acid Change
NM_003041.4:c.1320G= MANE Select	NP_003032.1:p.Trp440=
ENST00000330498.4:c.1320G= MANE Select	ENSP00000327943.3:p.Trp440=
NM_003041.3:c.1320G=	NP_003032.1:p.Trp440=
NR_130783.1:n.1149-204G=
NR_130783.2:n.1144-204G=
ENST00000330498.3:c.1320G=	ENSP00000327943.3:p.Trp440=
ENST00000419665.6:c.1130-204G=	ENSP00000410601.2:n.1130-204G=
ENST00000568188.1:n.691G=
ENST00000568891.1:n.282-204G=
XM_006721072.2:c.1341G=	XP_006721135.2:p.Trp447=
XM_006721072.4:c.1341G=	XP_006721135.2:p.Trp447=
XM_006721073.2:c.1301+147G=	XP_006721136.2:n.1301+147G=
XM_024450402.1:c.1151-204G=	XP_024306170.1:n.1151-204G=