Canonical Allele Identifier: CA2347254918
Gene: SLC23A2 HGNC NCBI

Linked Data

dbSNP Id: rs1932132500
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4911164_4911170del , CM000682.2:g.4911164_4911170del GRCh38
NC_000020.10:g.4891810_4891816del , CM000682.1:g.4891810_4891816del GRCh37
NC_000020.9:g.4839810_4839816del NCBI36
NG_029959.1:g.95334_95340del
NG_029959.2:g.104128_104134del

Transcript Alleles

HGVS Amino-acid change
ENST00000338244.6:c.207+1714_207+1720del MANE Select ENSP00000344322.1:n.207+1714_207+1720del
ENST00000338244.5:c.207+1714_207+1720del ENSP00000344322.1:n.207+1714_207+1720del
ENST00000379333.5:c.207+1714_207+1720del ENSP00000368637.1:n.207+1714_207+1720del
ENST00000468355.5:n.573+1714_573+1720del
NM_005116.5:c.207+1714_207+1720del NP_005107.4:n.207+1714_207+1720del
NM_203327.1:c.207+1714_207+1720del NP_976072.1:n.207+1714_207+1720del
XM_011529414.1:c.207+1714_207+1720del XP_011527716.1:n.207+1714_207+1720del
XM_011529415.1:c.207+1714_207+1720del XP_011527717.1:n.207+1714_207+1720del
XM_011529416.1:c.207+1714_207+1720del XP_011527718.1:n.207+1714_207+1720del
XM_011529417.1:c.207+1714_207+1720del XP_011527719.1:n.207+1714_207+1720del
NM_005116.6:c.207+1714_207+1720del MANE Select NP_005107.4:n.207+1714_207+1720del
NM_203327.2:c.207+1714_207+1720del NP_976072.1:n.207+1714_207+1720del
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