Canonical Allele Identifier: CA381653981

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2046353
• ClinVar RCV Id: RCV002913635
• COSMIC: COSM4944617
• MyVariant Identifiers: chr11:g.68704506A>G (hg19) ; chr11:g.68937038A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937038A>G , CM000673.2:g.68937038A>G	GRCh38
NC_000011.9:g.68704506A>G , CM000673.1:g.68704506A>G	GRCh37
NC_000011.8:g.68461082A>G	NCBI36
NG_007976.1:g.38188A>G , LRG_250:g.38188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2558A>G MANE Select	ENSP00000255078.4:p.Gln853Arg
ENST00000674675.1:c.703A>G
ENST00000674878.1:c.663A>G
ENST00000675118.1:c.2046A>G
ENST00000675389.1:n.833A>G
ENST00000675615.1:c.2558A>G	ENSP00000502413.1:p.Gln853Arg
ENST00000675648.1:n.1933A>G
ENST00000675916.1:c.802A>G
ENST00000676173.1:n.3303A>G
ENST00000676182.1:c.989A>G
ENST00000676228.1:c.*1881A>G	ENSP00000502375.1:n.*1881A>G
ENST00000255078.7:c.2558A>G	ENSP00000255078.3:p.Gln853Arg
ENST00000539064.5:n.2317A>G
ENST00000543739.5:n.1551A>G
NM_002180.2:c.2558A>G , LRG_250t1:c.2558A>G	NP_002171.2:p.Gln853Arg
XM_005273974.2:c.1547A>G	XP_005274031.1:p.Gln516Arg
XM_005273975.2:c.1430A>G	XP_005274032.1:p.Gln477Arg
XM_011544994.1:c.1325A>G	XP_011543296.1:p.Gln442Arg
XR_949903.1:n.2660A>G
XM_005273975.3:c.1430A>G	XP_005274032.1:p.Gln477Arg
XM_017017669.2:c.1547A>G	XP_016873158.1:p.Gln516Arg
XM_017017670.2:c.1547A>G	XP_016873159.1:p.Gln516Arg
XR_949903.3:n.2656A>G
NM_002180.3:c.2558A>G MANE Select	NP_002171.2:p.Gln853Arg