Canonical Allele Identifier: CA1014968346
Gene: SLC23A2 HGNC NCBI

Linked Data

dbSNP Id: rs1932123067
gnomAD v3: 20-4910964-TA-T
gnomAD v4: 20-4910964-TA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4910968del , CM000682.2:g.4910968del GRCh38
NC_000020.10:g.4891614del , CM000682.1:g.4891614del GRCh37
NC_000020.9:g.4839614del NCBI36
NG_029959.1:g.95535del
NG_029959.2:g.104329del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338244.6:c.207+1915del MANE Select ENSP00000344322.1:n.207+1915del
ENST00000338244.5:c.207+1915del ENSP00000344322.1:n.207+1915del
ENST00000379333.5:c.207+1915del ENSP00000368637.1:n.207+1915del
ENST00000468355.5:n.573+1915del
NM_005116.5:c.207+1915del NP_005107.4:n.207+1915del
NM_203327.1:c.207+1915del NP_976072.1:n.207+1915del
XM_011529414.1:c.207+1915del XP_011527716.1:n.207+1915del
XM_011529415.1:c.207+1915del XP_011527717.1:n.207+1915del
XM_011529416.1:c.207+1915del XP_011527718.1:n.207+1915del
XM_011529417.1:c.207+1915del XP_011527719.1:n.207+1915del
NM_005116.6:c.207+1915del MANE Select NP_005107.4:n.207+1915del
NM_203327.2:c.207+1915del NP_976072.1:n.207+1915del
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