Canonical Allele Identifier: CA1822775
Gene: RANBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 469443
ClinVar RCV Id: RCV000545048
dbSNP Id: rs200515712

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108762123A>G , CM000664.2:g.108762123A>G GRCh38
NC_000002.11:g.109378579A>G , CM000664.1:g.109378579A>G GRCh37
NC_000002.10:g.108745011A>G NCBI36
NG_012210.1:g.47643A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697737.1:c.2602+3575A>G ENSP00000513426.1:n.2602+3575A>G
ENST00000697740.1:c.2524+3575A>G ENSP00000513427.1:n.2524+3575A>G
ENST00000283195.11:c.2625A>G MANE Select ENSP00000283195.6:p.Val875=
ENST00000283195.10:c.2625A>G ENSP00000283195.6:p.Val875=
NM_006267.4:c.2625A>G NP_006258.3:p.Val875=
XM_005264002.1:c.2625A>G XP_005264059.1:p.Val875=
XM_005264003.1:c.2625A>G XP_005264060.1:p.Val875=
XM_005264004.1:c.2625A>G XP_005264061.1:p.Val875=
XM_005264005.3:c.2547A>G XP_005264062.1:p.Val849=
XM_005264007.1:c.2625A>G XP_005264064.1:p.Val875=
XM_011511575.1:c.2622A>G XP_011509877.1:p.Val874=
XM_011511576.1:c.2625A>G XP_011509878.1:p.Val875=
XM_011511577.1:c.-15-1114A>G XP_011509879.1:n.-15-1114A>G
XM_011511578.1:c.2622A>G XP_011509880.1:p.Val874=
XM_005264002.3:c.2625A>G XP_005264059.1:p.Val875=
XM_005264003.3:c.2625A>G XP_005264060.1:p.Val875=
XM_005264004.3:c.2625A>G XP_005264061.1:p.Val875=
XM_005264005.4:c.2547A>G XP_005264062.1:p.Val849=
XM_005264007.3:c.2625A>G XP_005264064.1:p.Val875=
XM_011511575.2:c.2622A>G XP_011509877.1:p.Val874=
XM_011511576.3:c.2625A>G XP_011509878.1:p.Val875=
XM_011511578.2:c.2622A>G XP_011509880.1:p.Val874=
XM_017004623.2:c.2625A>G XP_016860112.1:p.Val875=
XM_017004624.2:c.2603-1114A>G XP_016860113.1:n.2603-1114A>G
NM_006267.5:c.2625A>G MANE Select NP_006258.3:p.Val875=