Canonical Allele Identifier: CA745185439
Gene: SLC23A2 HGNC NCBI

Linked Data

dbSNP Id: rs1202939287
gnomAD v3: 20-4977065-G-A
gnomAD v4: 20-4977065-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4977065G>A , CM000682.2:g.4977065G>A GRCh38
NC_000020.10:g.4957711G>A , CM000682.1:g.4957711G>A GRCh37
NC_000020.9:g.4905711G>A NCBI36
NG_029959.1:g.29435C>T
NG_029959.2:g.38229C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338244.6:c.-281-6146C>T MANE Select ENSP00000344322.1:n.-281-6146C>T
ENST00000338244.5:c.-281-6146C>T ENSP00000344322.1:n.-281-6146C>T
ENST00000379333.5:c.-281-6146C>T ENSP00000368637.1:n.-281-6146C>T
ENST00000468355.5:n.90-6150C>T
NM_005116.5:c.-281-6146C>T NP_005107.4:n.-281-6146C>T
NM_203327.1:c.-281-6146C>T NP_976072.1:n.-281-6146C>T
XM_011529414.1:c.-277-6150C>T XP_011527716.1:n.-277-6150C>T
XM_011529417.1:c.-155+24341C>T XP_011527719.1:n.-155+24341C>T
NM_005116.6:c.-281-6146C>T MANE Select NP_005107.4:n.-281-6146C>T
NM_203327.2:c.-281-6146C>T NP_976072.1:n.-281-6146C>T