Canonical Allele Identifier: CA1822505

Gene: RANBP2

Linked Data

• ClinVar Variation Id: 1005561
• ClinVar RCV Id: RCV001302454
• dbSNP Id: rs759073709
• ExAC: 2:109369957 G / A
• gnomAD v2: 2-109369957-G-A
• gnomAD v3: 2-108753501-G-A
• gnomAD v4: 2-108753501-G-A
• MyVariant Identifiers: chr2:g.109369957G>A (hg19) ; chr2:g.108753501G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108753501G>A , CM000664.2:g.108753501G>A	GRCh38
NC_000002.11:g.109369957G>A , CM000664.1:g.109369957G>A	GRCh37
NC_000002.10:g.108736389G>A	NCBI36
NG_012210.1:g.39021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697737.1:c.1993G>A	ENSP00000513426.1:p.Glu665Lys
ENST00000697740.1:c.1915G>A	ENSP00000513427.1:p.Glu639Lys
ENST00000283195.11:c.1993G>A MANE Select	ENSP00000283195.6:p.Glu665Lys
ENST00000283195.10:c.1993G>A	ENSP00000283195.6:p.Glu665Lys
NM_006267.4:c.1993G>A	NP_006258.3:p.Glu665Lys
XM_005264002.1:c.1993G>A	XP_005264059.1:p.Glu665Lys
XM_005264003.1:c.1993G>A	XP_005264060.1:p.Glu665Lys
XM_005264004.1:c.1993G>A	XP_005264061.1:p.Glu665Lys
XM_005264005.3:c.1915G>A	XP_005264062.1:p.Glu639Lys
XM_005264007.1:c.1993G>A	XP_005264064.1:p.Glu665Lys
XM_011511575.1:c.1990G>A	XP_011509877.1:p.Glu664Lys
XM_011511576.1:c.1993G>A	XP_011509878.1:p.Glu665Lys
XM_011511578.1:c.1990G>A	XP_011509880.1:p.Glu664Lys
XM_005264002.3:c.1993G>A	XP_005264059.1:p.Glu665Lys
XM_005264003.3:c.1993G>A	XP_005264060.1:p.Glu665Lys
XM_005264004.3:c.1993G>A	XP_005264061.1:p.Glu665Lys
XM_005264005.4:c.1915G>A	XP_005264062.1:p.Glu639Lys
XM_005264007.3:c.1993G>A	XP_005264064.1:p.Glu665Lys
XM_011511575.2:c.1990G>A	XP_011509877.1:p.Glu664Lys
XM_011511576.3:c.1993G>A	XP_011509878.1:p.Glu665Lys
XM_011511578.2:c.1990G>A	XP_011509880.1:p.Glu664Lys
XM_017004623.2:c.1993G>A	XP_016860112.1:p.Glu665Lys
XM_017004624.2:c.1993G>A	XP_016860113.1:p.Glu665Lys
XM_017004625.1:c.1993G>A	XP_016860114.1:p.Glu665Lys
NM_006267.5:c.1993G>A MANE Select	NP_006258.3:p.Glu665Lys