Canonical Allele Identifier: CA2347238870
Community Standard Title: NM_005116.6(SLC23A2):c.1002T= (p.Asp334=)
Gene: SLC23A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.4874036A= , CM000682.2:g.4874036A= GRCh38
NC_000020.10:g.4854682A= , CM000682.1:g.4854682A= GRCh37
NC_000020.9:g.4802682A= NCBI36
NG_029959.1:g.132464T=
NG_029959.2:g.141258T=

Transcript Alleles

HGVS Amino-acid Change
NM_005116.6:c.1002T= MANE Select NP_005107.4:p.Asp334=
ENST00000338244.6:c.1002T= MANE Select ENSP00000344322.1:p.Asp334=
NM_005116.5:c.1002T= NP_005107.4:p.Asp334=
NM_203327.1:c.1002T= NP_976072.1:p.Asp334=
NM_203327.2:c.1002T= NP_976072.1:p.Asp334=
ENST00000338244.5:c.1002T= ENSP00000344322.1:p.Asp334=
ENST00000379333.5:c.1002T= ENSP00000368637.1:p.Asp334=
ENST00000423430.1:c.271T=
ENST00000468355.5:n.1368T=
ENST00000496331.1:n.602T=
XM_005260904.2:c.537T= XP_005260961.1:p.Asp179=
XM_011529414.1:c.1002T= XP_011527716.1:p.Asp334=
XM_011529415.1:c.1002T= XP_011527717.1:p.Asp334=
XM_011529416.1:c.1002T= XP_011527718.1:p.Asp334=
XM_011529417.1:c.1002T= XP_011527719.1:p.Asp334=