Canonical Allele Identifier: CA2217073080
Gene: SLC5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31488956T= , CM000678.2:g.31488956T= GRCh38
NC_000016.9:g.31500277T= , CM000678.1:g.31500277T= GRCh37
NC_000016.8:g.31407778T= NCBI36
NG_012892.1:g.10839T=
NG_033149.1:g.24464A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330498.4:c.1357T= MANE Select ENSP00000327943.3:p.Phe453=
ENST00000330498.3:c.1357T= ENSP00000327943.3:p.Phe453=
ENST00000419665.6:c.1130-167T= ENSP00000410601.2:n.1130-167T=
ENST00000568188.1:n.728T=
ENST00000568891.1:n.282-167T=
NM_003041.3:c.1357T= NP_003032.1:p.Phe453=
NR_130783.1:n.1149-167T=
XM_006721072.2:c.1378T= XP_006721135.2:p.Phe460=
XM_006721073.2:c.1302-167T= XP_006721136.2:n.1302-167T=
XM_006721072.4:c.1378T= XP_006721135.2:p.Phe460=
XM_024450402.1:c.1151-167T= XP_024306170.1:n.1151-167T=
NM_003041.4:c.1357T= MANE Select NP_003032.1:p.Phe453=
NR_130783.2:n.1144-167T=