Canonical Allele Identifier: CA2217073022
Gene: SLC5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31488938G= , CM000678.2:g.31488938G= GRCh38
NC_000016.9:g.31500259G= , CM000678.1:g.31500259G= GRCh37
NC_000016.8:g.31407760G= NCBI36
NG_012892.1:g.10821G=
NG_033149.1:g.24482C=

Transcript Alleles

HGVS Amino-acid change
ENST00000330498.4:c.1339G= MANE Select ENSP00000327943.3:p.Ala447=
ENST00000330498.3:c.1339G= ENSP00000327943.3:p.Ala447=
ENST00000419665.6:c.1130-185G= ENSP00000410601.2:n.1130-185G=
ENST00000568188.1:n.710G=
ENST00000568891.1:n.282-185G=
NM_003041.3:c.1339G= NP_003032.1:p.Ala447=
NR_130783.1:n.1149-185G=
XM_006721072.2:c.1360G= XP_006721135.2:p.Ala454=
XM_006721073.2:c.1301+166G= XP_006721136.2:n.1301+166G=
XM_006721072.4:c.1360G= XP_006721135.2:p.Ala454=
XM_024450402.1:c.1151-185G= XP_024306170.1:n.1151-185G=
NM_003041.4:c.1339G= MANE Select NP_003032.1:p.Ala447=
NR_130783.2:n.1144-185G=