Canonical Allele Identifier: CA2217073322
Gene: SLC5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31489049G= , CM000678.2:g.31489049G= GRCh38
NC_000016.9:g.31500370G= , CM000678.1:g.31500370G= GRCh37
NC_000016.8:g.31407871G= NCBI36
NG_012892.1:g.10932G=
NG_033149.1:g.24371C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000330498.4:c.1449+1G= MANE Select ENSP00000327943.3:n.1449+1G=
ENST00000330498.3:c.1449+1G= ENSP00000327943.3:n.1449+1G=
ENST00000419665.6:c.1130-74G= ENSP00000410601.2:n.1130-74G=
ENST00000568188.1:n.820+1G=
ENST00000568891.1:n.282-74G=
NM_003041.3:c.1449+1G= NP_003032.1:n.1449+1G=
NR_130783.1:n.1149-74G=
XM_006721072.2:c.1470+1G= XP_006721135.2:n.1470+1G=
XM_006721073.2:c.1302-74G= XP_006721136.2:n.1302-74G=
XM_006721072.4:c.1470+1G= XP_006721135.2:n.1470+1G=
XM_024450402.1:c.1151-74G= XP_024306170.1:n.1151-74G=
NM_003041.4:c.1449+1G= MANE Select NP_003032.1:n.1449+1G=
NR_130783.2:n.1144-74G=