Canonical Allele Identifier: CA340775
Gene: RANBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8365
ClinVar RCV Id: RCV000008870
dbSNP Id: rs121434504

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108753474A>G , CM000664.2:g.108753474A>G GRCh38
NC_000002.11:g.109369930A>G , CM000664.1:g.109369930A>G GRCh37
NC_000002.10:g.108736362A>G NCBI36
NG_012210.1:g.38994A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697737.1:c.1966A>G ENSP00000513426.1:p.Ile656Val
ENST00000697740.1:c.1888A>G ENSP00000513427.1:p.Ile630Val
ENST00000283195.11:c.1966A>G MANE Select ENSP00000283195.6:p.Ile656Val
ENST00000283195.10:c.1966A>G ENSP00000283195.6:p.Ile656Val
NM_006267.4:c.1966A>G NP_006258.3:p.Ile656Val
XM_005264002.1:c.1966A>G XP_005264059.1:p.Ile656Val
XM_005264003.1:c.1966A>G XP_005264060.1:p.Ile656Val
XM_005264004.1:c.1966A>G XP_005264061.1:p.Ile656Val
XM_005264005.3:c.1888A>G XP_005264062.1:p.Ile630Val
XM_005264007.1:c.1966A>G XP_005264064.1:p.Ile656Val
XM_011511575.1:c.1963A>G XP_011509877.1:p.Ile655Val
XM_011511576.1:c.1966A>G XP_011509878.1:p.Ile656Val
XM_011511578.1:c.1963A>G XP_011509880.1:p.Ile655Val
XM_005264002.3:c.1966A>G XP_005264059.1:p.Ile656Val
XM_005264003.3:c.1966A>G XP_005264060.1:p.Ile656Val
XM_005264004.3:c.1966A>G XP_005264061.1:p.Ile656Val
XM_005264005.4:c.1888A>G XP_005264062.1:p.Ile630Val
XM_005264007.3:c.1966A>G XP_005264064.1:p.Ile656Val
XM_011511575.2:c.1963A>G XP_011509877.1:p.Ile655Val
XM_011511576.3:c.1966A>G XP_011509878.1:p.Ile656Val
XM_011511578.2:c.1963A>G XP_011509880.1:p.Ile655Val
XM_017004623.2:c.1966A>G XP_016860112.1:p.Ile656Val
XM_017004624.2:c.1966A>G XP_016860113.1:p.Ile656Val
XM_017004625.1:c.1966A>G XP_016860114.1:p.Ile656Val
NM_006267.5:c.1966A>G MANE Select NP_006258.3:p.Ile656Val