Canonical Allele Identifier: CA6153530

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 466573
• ClinVar RCV Id: RCV000600634 ; RCV001532174 ; RCV000545655 ; RCV002456138
• dbSNP Id: rs145314949
• ExAC: 11:68696733 C / T
• gnomAD v2: 11-68696733-C-T
• gnomAD v3: 11-68929265-C-T
• gnomAD v4: 11-68929265-C-T
• COSMIC: COSM3870034
• MyVariant Identifiers: chr11:g.68696733C>T (hg19) ; chr11:g.68929265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929265C>T , CM000673.2:g.68929265C>T	GRCh38
NC_000011.9:g.68696733C>T , CM000673.1:g.68696733C>T	GRCh37
NC_000011.8:g.68453309C>T	NCBI36
NG_007976.1:g.30415C>T , LRG_250:g.30415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1143C>T MANE Select	ENSP00000255078.4:p.Leu381=
ENST00000674698.1:n.83C>T
ENST00000674745.1:c.308C>T	ENSP00000502738.1:n.308C>T
ENST00000674775.1:n.343C>T
ENST00000674955.1:c.1143C>T	ENSP00000502463.1:p.Leu381=
ENST00000675118.1:c.631C>T
ENST00000675305.1:c.463C>T	ENSP00000502365.1:n.463C>T
ENST00000675310.1:n.83C>T
ENST00000675493.1:n.304C>T
ENST00000675615.1:c.1143C>T	ENSP00000502413.1:p.Leu381=
ENST00000675648.1:n.518C>T
ENST00000675684.1:c.270C>T	ENSP00000502192.1:p.Leu90=
ENST00000675755.1:n.83C>T
ENST00000676083.1:n.83C>T
ENST00000676173.1:n.1187C>T
ENST00000676228.1:c.*466C>T	ENSP00000502375.1:n.*466C>T
ENST00000676240.1:n.83C>T
ENST00000676400.1:n.83C>T
ENST00000255078.7:c.1143C>T	ENSP00000255078.3:p.Leu381=
ENST00000568742.1:n.253C>T
NM_002180.2:c.1143C>T , LRG_250t1:c.1143C>T	NP_002171.2:p.Leu381=
XM_005273974.2:c.132C>T	XP_005274031.1:p.Leu44=
XM_005273976.1:c.1143C>T	XP_005274033.1:p.Leu381=
XR_247198.1:n.1245C>T
XR_949903.1:n.1245C>T
XM_005273976.2:c.1143C>T	XP_005274033.1:p.Leu381=
XM_017017669.2:c.132C>T	XP_016873158.1:p.Leu44=
XM_017017670.2:c.132C>T	XP_016873159.1:p.Leu44=
XM_017017671.2:c.1143C>T	XP_016873160.1:p.Leu381=
XR_949903.3:n.1241C>T
NM_002180.3:c.1143C>T MANE Select	NP_002171.2:p.Leu381=