Canonical Allele Identifier: CA348053484
Gene: RANBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1439162
ClinVar RCV Id: RCV001958046
dbSNP Id: rs767990485

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108753523A>C , CM000664.2:g.108753523A>C GRCh38
NC_000002.11:g.109369979A>C , CM000664.1:g.109369979A>C GRCh37
NC_000002.10:g.108736411A>C NCBI36
NG_012210.1:g.39043A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000697737.1:c.2015A>C ENSP00000513426.1:p.Glu672Ala
ENST00000697740.1:c.1937A>C ENSP00000513427.1:p.Glu646Ala
ENST00000283195.11:c.2015A>C MANE Select ENSP00000283195.6:p.Glu672Ala
ENST00000283195.10:c.2015A>C ENSP00000283195.6:p.Glu672Ala
NM_006267.4:c.2015A>C NP_006258.3:p.Glu672Ala
XM_005264002.1:c.2015A>C XP_005264059.1:p.Glu672Ala
XM_005264003.1:c.2015A>C XP_005264060.1:p.Glu672Ala
XM_005264004.1:c.2015A>C XP_005264061.1:p.Glu672Ala
XM_005264005.3:c.1937A>C XP_005264062.1:p.Glu646Ala
XM_005264007.1:c.2015A>C XP_005264064.1:p.Glu672Ala
XM_011511575.1:c.2012A>C XP_011509877.1:p.Glu671Ala
XM_011511576.1:c.2015A>C XP_011509878.1:p.Glu672Ala
XM_011511578.1:c.2012A>C XP_011509880.1:p.Glu671Ala
XM_005264002.3:c.2015A>C XP_005264059.1:p.Glu672Ala
XM_005264003.3:c.2015A>C XP_005264060.1:p.Glu672Ala
XM_005264004.3:c.2015A>C XP_005264061.1:p.Glu672Ala
XM_005264005.4:c.1937A>C XP_005264062.1:p.Glu646Ala
XM_005264007.3:c.2015A>C XP_005264064.1:p.Glu672Ala
XM_011511575.2:c.2012A>C XP_011509877.1:p.Glu671Ala
XM_011511576.3:c.2015A>C XP_011509878.1:p.Glu672Ala
XM_011511578.2:c.2012A>C XP_011509880.1:p.Glu671Ala
XM_017004623.2:c.2015A>C XP_016860112.1:p.Glu672Ala
XM_017004624.2:c.2015A>C XP_016860113.1:p.Glu672Ala
XM_017004625.1:c.2015A>C XP_016860114.1:p.Glu672Ala
NM_006267.5:c.2015A>C MANE Select NP_006258.3:p.Glu672Ala