Canonical Allele Identifier: CA348053885

Gene: RANBP2

Linked Data

• ClinVar Variation Id: 1424396
• ClinVar RCV Id: RCV001957170
• dbSNP Id: rs1676073772
• gnomAD v4: 2-108753562-T-G
• MyVariant Identifiers: chr2:g.109370018T>G (hg19) ; chr2:g.108753562T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108753562T>G , CM000664.2:g.108753562T>G	GRCh38
NC_000002.11:g.109370018T>G , CM000664.1:g.109370018T>G	GRCh37
NC_000002.10:g.108736450T>G	NCBI36
NG_012210.1:g.39082T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697737.1:c.2054T>G	ENSP00000513426.1:p.Leu685Arg
ENST00000697740.1:c.1976T>G	ENSP00000513427.1:p.Leu659Arg
ENST00000283195.11:c.2054T>G MANE Select	ENSP00000283195.6:p.Leu685Arg
ENST00000283195.10:c.2054T>G	ENSP00000283195.6:p.Leu685Arg
NM_006267.4:c.2054T>G	NP_006258.3:p.Leu685Arg
XM_005264002.1:c.2054T>G	XP_005264059.1:p.Leu685Arg
XM_005264003.1:c.2054T>G	XP_005264060.1:p.Leu685Arg
XM_005264004.1:c.2054T>G	XP_005264061.1:p.Leu685Arg
XM_005264005.3:c.1976T>G	XP_005264062.1:p.Leu659Arg
XM_005264007.1:c.2054T>G	XP_005264064.1:p.Leu685Arg
XM_011511575.1:c.2051T>G	XP_011509877.1:p.Leu684Arg
XM_011511576.1:c.2054T>G	XP_011509878.1:p.Leu685Arg
XM_011511578.1:c.2051T>G	XP_011509880.1:p.Leu684Arg
XM_005264002.3:c.2054T>G	XP_005264059.1:p.Leu685Arg
XM_005264003.3:c.2054T>G	XP_005264060.1:p.Leu685Arg
XM_005264004.3:c.2054T>G	XP_005264061.1:p.Leu685Arg
XM_005264005.4:c.1976T>G	XP_005264062.1:p.Leu659Arg
XM_005264007.3:c.2054T>G	XP_005264064.1:p.Leu685Arg
XM_011511575.2:c.2051T>G	XP_011509877.1:p.Leu684Arg
XM_011511576.3:c.2054T>G	XP_011509878.1:p.Leu685Arg
XM_011511578.2:c.2051T>G	XP_011509880.1:p.Leu684Arg
XM_017004623.2:c.2054T>G	XP_016860112.1:p.Leu685Arg
XM_017004624.2:c.2054T>G	XP_016860113.1:p.Leu685Arg
XM_017004625.1:c.2054T>G	XP_016860114.1:p.Leu685Arg
NM_006267.5:c.2054T>G MANE Select	NP_006258.3:p.Leu685Arg