Canonical Allele Identifier: CA340774
Gene: RANBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8364
ClinVar RCV Id: RCV000008869
dbSNP Id: rs121434503
MyVariant Identifiers: chr2:g.109369922C>T (hg19) chr2:g.108753466C>T (hg38)
PubMed: PMID:19118815 PMID:25473726
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000697737.1:c.1958C>T ENSP00000513426.1:p.Thr653Ile
ENST00000697740.1:c.1880C>T ENSP00000513427.1:p.Thr627Ile
ENST00000283195.11:c.1958C>T MANE Select ENSP00000283195.6:p.Thr653Ile
ENST00000283195.10:c.1958C>T ENSP00000283195.6:p.Thr653Ile
NM_006267.4:c.1958C>T 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
XM_005264002.3:c.1958C>T XP_005264059.1:p.Thr653Ile
XM_005264003.3:c.1958C>T XP_005264060.1:p.Thr653Ile
XM_005264004.3:c.1958C>T XP_005264061.1:p.Thr653Ile
XM_005264005.4:c.1880C>T XP_005264062.1:p.Thr627Ile
XM_005264007.3:c.1958C>T XP_005264064.1:p.Thr653Ile
XM_011511575.2:c.1955C>T XP_011509877.1:p.Thr652Ile
XM_011511576.3:c.1958C>T XP_011509878.1:p.Thr653Ile
XM_011511578.2:c.1955C>T XP_011509880.1:p.Thr652Ile
XM_017004623.2:c.1958C>T XP_016860112.1:p.Thr653Ile
XM_017004624.2:c.1958C>T XP_016860113.1:p.Thr653Ile
XM_017004625.1:c.1958C>T XP_016860114.1:p.Thr653Ile
NM_006267.5:c.1958C>T MANE Select NP_006258.3:p.Thr653Ile
Search 100 bp 5'
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