Canonical Allele Identifier: CA1014983911
Gene: SLC23A2 HGNC NCBI

Linked Data

dbSNP Id: rs1321447837
gnomAD v3: 20-4977108-C-T
gnomAD v4: 20-4977108-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4977108C>T , CM000682.2:g.4977108C>T GRCh38
NC_000020.10:g.4957754C>T , CM000682.1:g.4957754C>T GRCh37
NC_000020.9:g.4905754C>T NCBI36
NG_029959.1:g.29392G>A
NG_029959.2:g.38186G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338244.6:c.-281-6189G>A MANE Select ENSP00000344322.1:n.-281-6189G>A
ENST00000338244.5:c.-281-6189G>A ENSP00000344322.1:n.-281-6189G>A
ENST00000379333.5:c.-281-6189G>A ENSP00000368637.1:n.-281-6189G>A
ENST00000468355.5:n.90-6193G>A
NM_005116.5:c.-281-6189G>A NP_005107.4:n.-281-6189G>A
NM_203327.1:c.-281-6189G>A NP_976072.1:n.-281-6189G>A
XM_011529414.1:c.-277-6193G>A XP_011527716.1:n.-277-6193G>A
XM_011529417.1:c.-155+24298G>A XP_011527719.1:n.-155+24298G>A
NM_005116.6:c.-281-6189G>A MANE Select NP_005107.4:n.-281-6189G>A
NM_203327.2:c.-281-6189G>A NP_976072.1:n.-281-6189G>A
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