Canonical Allele Identifier: CA2347281431
Gene: SLC23A2 HGNC NCBI

Linked Data

dbSNP Id: rs6139591
gnomAD v4: 20-4970713-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4970713G>T , CM000682.2:g.4970713G>T GRCh38
NC_000020.10:g.4951359G>T , CM000682.1:g.4951359G>T GRCh37
NC_000020.9:g.4899359G>T NCBI36
NG_029959.1:g.35787C>A
NG_029959.2:g.44581C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000338244.6:c.-155+80C>A MANE Select ENSP00000344322.1:n.-155+80C>A
ENST00000338244.5:c.-155+80C>A ENSP00000344322.1:n.-155+80C>A
ENST00000379333.5:c.-155+80C>A ENSP00000368637.1:n.-155+80C>A
ENST00000468355.5:n.212+80C>A
NM_005116.5:c.-155+80C>A NP_005107.4:n.-155+80C>A
NM_203327.1:c.-155+80C>A NP_976072.1:n.-155+80C>A
XM_011529414.1:c.-155+80C>A XP_011527716.1:n.-155+80C>A
XM_011529417.1:c.-155+30693C>A XP_011527719.1:n.-155+30693C>A
NM_005116.6:c.-155+80C>A MANE Select NP_005107.4:n.-155+80C>A
NM_203327.2:c.-155+80C>A NP_976072.1:n.-155+80C>A
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