Canonical Allele Identifier: CA340774
Gene: RANBP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8364
ClinVar RCV Id: RCV000008869
dbSNP Id: rs121434503

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108753466C>T , CM000664.2:g.108753466C>T GRCh38
NC_000002.10:g.108736354C>T NCBI36
NC_000002.11:g.109369922C>T , CM000664.1:g.109369922C>T GRCh37
NG_012210.1:g.38986C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000283195.10:c.1958C>T ENSP00000283195.6:p.Thr653Ile
NM_006267.4:c.1958C>T VV NP_006258.3:p.Thr653Ile
XM_005264002.1:c.1958C>T XP_005264059.1:p.Thr653Ile
XM_005264003.1:c.1958C>T XP_005264060.1:p.Thr653Ile
XM_005264004.1:c.1958C>T XP_005264061.1:p.Thr653Ile
XM_005264005.3:c.1880C>T XP_005264062.1:p.Thr627Ile
XM_005264007.1:c.1958C>T XP_005264064.1:p.Thr653Ile
XM_011511575.1:c.1955C>T XP_011509877.1:p.Thr652Ile
XM_011511576.1:c.1958C>T XP_011509878.1:p.Thr653Ile
XM_011511578.1:c.1955C>T XP_011509880.1:p.Thr652Ile