Canonical Allele Identifier: CA16609355
Gene: RANBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 393529
ClinVar RCV Id: RCV000445625
dbSNP Id: rs1060499624
MyVariant Identifiers: chr2:g.109382244C>G (hg19) chr2:g.108765788C>G (hg38)
PubMed: PMID:2759111 PMID:19118815
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108765788C>G , CM000664.2:g.108765788C>G GRCh38
NC_000002.11:g.109382244C>G , CM000664.1:g.109382244C>G GRCh37
NC_000002.10:g.108748676C>G NCBI36
NG_012210.1:g.51308C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697737.1:c.2603-5913C>G ENSP00000513426.1:n.2603-5913C>G
ENST00000697740.1:c.2525-5913C>G ENSP00000513427.1:n.2525-5913C>G
ENST00000697744.1:c.115C>G
ENST00000697745.1:c.115C>G
ENST00000283195.11:c.5249C>G MANE Select ENSP00000283195.6:p.Pro1750Arg
ENST00000283195.10:c.5249C>G ENSP00000283195.6:p.Pro1750Arg
NM_006267.4:c.5249C>G NP_006258.3:p.Pro1750Arg
XM_005264002.1:c.5249C>G XP_005264059.1:p.Pro1750Arg
XM_005264003.1:c.5249C>G XP_005264060.1:p.Pro1750Arg
XM_005264004.1:c.5249C>G XP_005264061.1:p.Pro1750Arg
XM_005264005.3:c.5171C>G XP_005264062.1:p.Pro1724Arg
XM_005264007.1:c.2698-377C>G XP_005264064.1:n.2698-377C>G
XM_011511575.1:c.5246C>G XP_011509877.1:p.Pro1749Arg
XM_011511576.1:c.5072C>G XP_011509878.1:p.Pro1691Arg
XM_011511577.1:c.2537C>G XP_011509879.1:p.Pro846Arg
XM_011511578.1:c.2695-377C>G XP_011509880.1:n.2695-377C>G
XM_005264002.3:c.5249C>G XP_005264059.1:p.Pro1750Arg
XM_005264003.3:c.5249C>G XP_005264060.1:p.Pro1750Arg
XM_005264004.3:c.5249C>G XP_005264061.1:p.Pro1750Arg
XM_005264005.4:c.5171C>G XP_005264062.1:p.Pro1724Arg
XM_005264007.3:c.2698-377C>G XP_005264064.1:n.2698-377C>G
XM_011511575.2:c.5246C>G XP_011509877.1:p.Pro1749Arg
XM_011511576.3:c.5072C>G XP_011509878.1:p.Pro1691Arg
XM_011511578.2:c.2695-377C>G XP_011509880.1:n.2695-377C>G
XM_017004623.2:c.5249C>G XP_016860112.1:p.Pro1750Arg
NM_006267.5:c.5249C>G MANE Select NP_006258.3:p.Pro1750Arg
Search 100 bp 5'
Search 100 bp 3'