Canonical Allele Identifier: CA348078533

Gene: RANBP2

Linked Data

• dbSNP Id: rs140280672
• gnomAD v3: 2-108768038-C-A
• gnomAD v4: 2-108768038-C-A
• MyVariant Identifiers: chr2:g.109384494C>A (hg19) ; chr2:g.108768038C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108768038C>A , CM000664.2:g.108768038C>A	GRCh38
NC_000002.11:g.109384494C>A , CM000664.1:g.109384494C>A	GRCh37
NC_000002.10:g.108750926C>A	NCBI36
NG_012210.1:g.53558C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697737.1:c.2603-3663C>A	ENSP00000513426.1:n.2603-3663C>A
ENST00000697740.1:c.2525-3663C>A	ENSP00000513427.1:n.2525-3663C>A
ENST00000697744.1:c.2365C>A
ENST00000697745.1:c.2365C>A
ENST00000697746.1:n.311C>A
ENST00000697747.1:c.130C>A
ENST00000283195.11:c.7499C>A MANE Select	ENSP00000283195.6:p.Thr2500Lys
ENST00000283195.10:c.7499C>A	ENSP00000283195.6:p.Thr2500Lys
NM_006267.4:c.7499C>A	NP_006258.3:p.Thr2500Lys
XM_005264002.1:c.7499C>A	XP_005264059.1:p.Thr2500Lys
XM_005264003.1:c.7499C>A	XP_005264060.1:p.Thr2500Lys
XM_005264004.1:c.7499C>A	XP_005264061.1:p.Thr2500Lys
XM_005264005.3:c.7421C>A	XP_005264062.1:p.Thr2474Lys
XM_005264007.1:c.4571C>A	XP_005264064.1:p.Thr1524Lys
XM_011511575.1:c.7496C>A	XP_011509877.1:p.Thr2499Lys
XM_011511576.1:c.7322C>A	XP_011509878.1:p.Thr2441Lys
XM_011511577.1:c.4787C>A	XP_011509879.1:p.Thr1596Lys
XM_011511578.1:c.4568C>A	XP_011509880.1:p.Thr1523Lys
XM_005264002.3:c.7499C>A	XP_005264059.1:p.Thr2500Lys
XM_005264003.3:c.7499C>A	XP_005264060.1:p.Thr2500Lys
XM_005264004.3:c.7499C>A	XP_005264061.1:p.Thr2500Lys
XM_005264005.4:c.7421C>A	XP_005264062.1:p.Thr2474Lys
XM_005264007.3:c.4571C>A	XP_005264064.1:p.Thr1524Lys
XM_011511575.2:c.7496C>A	XP_011509877.1:p.Thr2499Lys
XM_011511576.3:c.7322C>A	XP_011509878.1:p.Thr2441Lys
XM_011511578.2:c.4568C>A	XP_011509880.1:p.Thr1523Lys
XM_017004623.2:c.7499C>A	XP_016860112.1:p.Thr2500Lys
NM_006267.5:c.7499C>A MANE Select	NP_006258.3:p.Thr2500Lys