Canonical Allele Identifier: CA2347258049
Gene: SLC23A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4918250T>A , CM000682.2:g.4918250T>A GRCh38
NC_000020.10:g.4898896T>A , CM000682.1:g.4898896T>A GRCh37
NC_000020.9:g.4846896T>A NCBI36
NG_029959.1:g.88250A>T
NG_029959.2:g.97044A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338244.6:c.109-5272A>T MANE Select ENSP00000344322.1:n.109-5272A>T
ENST00000338244.5:c.109-5272A>T ENSP00000344322.1:n.109-5272A>T
ENST00000379333.5:c.109-5272A>T ENSP00000368637.1:n.109-5272A>T
ENST00000468355.5:n.475-5272A>T
NM_005116.5:c.109-5272A>T NP_005107.4:n.109-5272A>T
NM_203327.1:c.109-5272A>T NP_976072.1:n.109-5272A>T
XM_011529414.1:c.109-5272A>T XP_011527716.1:n.109-5272A>T
XM_011529415.1:c.109-5272A>T XP_011527717.1:n.109-5272A>T
XM_011529416.1:c.109-5272A>T XP_011527718.1:n.109-5272A>T
XM_011529417.1:c.109-5272A>T XP_011527719.1:n.109-5272A>T
NM_005116.6:c.109-5272A>T MANE Select NP_005107.4:n.109-5272A>T
NM_203327.2:c.109-5272A>T NP_976072.1:n.109-5272A>T