Canonical Allele Identifier: CA745185403
Gene: SLC23A2 HGNC NCBI

Linked Data

dbSNP Id: rs1404484178
gnomAD v3: 20-4976997-C-A
gnomAD v4: 20-4976997-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4976997C>A , CM000682.2:g.4976997C>A GRCh38
NC_000020.10:g.4957643C>A , CM000682.1:g.4957643C>A GRCh37
NC_000020.9:g.4905643C>A NCBI36
NG_029959.1:g.29503G>T
NG_029959.2:g.38297G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338244.6:c.-281-6078G>T MANE Select ENSP00000344322.1:n.-281-6078G>T
ENST00000338244.5:c.-281-6078G>T ENSP00000344322.1:n.-281-6078G>T
ENST00000379333.5:c.-281-6078G>T ENSP00000368637.1:n.-281-6078G>T
ENST00000468355.5:n.90-6082G>T
NM_005116.5:c.-281-6078G>T NP_005107.4:n.-281-6078G>T
NM_203327.1:c.-281-6078G>T NP_976072.1:n.-281-6078G>T
XM_011529414.1:c.-277-6082G>T XP_011527716.1:n.-277-6082G>T
XM_011529417.1:c.-155+24409G>T XP_011527719.1:n.-155+24409G>T
NM_005116.6:c.-281-6078G>T MANE Select NP_005107.4:n.-281-6078G>T
NM_203327.2:c.-281-6078G>T NP_976072.1:n.-281-6078G>T