Canonical Allele Identifier: CA6153276

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 653194
• ClinVar RCV Id: RCV000808921 ; RCV002370165 ; RCV001811499
• dbSNP Id: rs761440964
• ExAC: 11:68675749 G / T
• gnomAD v2: 11-68675749-G-T
• gnomAD v3: 11-68908281-G-T
• gnomAD v4: 11-68908281-G-T
• MyVariant Identifiers: chr11:g.68675749G>T (hg19) ; chr11:g.68908281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908281G>T , CM000673.2:g.68908281G>T	GRCh38
NC_000011.9:g.68675749G>T , CM000673.1:g.68675749G>T	GRCh37
NC_000011.8:g.68432325G>T	NCBI36
NG_007976.1:g.9431G>T , LRG_250:g.9431G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.393G>T MANE Select	ENSP00000255078.4:p.Glu131Asp
ENST00000539224.2:c.356G>T
ENST00000674583.1:c.356G>T
ENST00000674597.1:c.204G>T
ENST00000674955.1:c.393G>T	ENSP00000502463.1:p.Glu131Asp
ENST00000675142.1:n.356G>T
ENST00000675469.1:c.269G>T
ENST00000675615.1:c.393G>T	ENSP00000502413.1:p.Glu131Asp
ENST00000675674.1:n.356G>T
ENST00000675873.1:c.356G>T
ENST00000676173.1:n.437G>T
ENST00000676228.1:c.393G>T	ENSP00000502375.1:p.Glu131Asp
ENST00000255078.7:c.393G>T	ENSP00000255078.3:p.Glu131Asp
ENST00000539224.1:c.393G>T	ENSP00000440465.1:p.Glu131Asp
ENST00000544541.1:c.*133G>T	ENSP00000443343.1:n.*133G>T
NM_002180.2:c.393G>T , LRG_250t1:c.393G>T	NP_002171.2:p.Glu131Asp
XM_005273974.2:c.-619G>T	XP_005274031.1:n.-619G>T
XM_005273976.1:c.393G>T	XP_005274033.1:p.Glu131Asp
XR_247198.1:n.495G>T
XR_949903.1:n.495G>T
XM_005273976.2:c.393G>T	XP_005274033.1:p.Glu131Asp
XM_017017669.2:c.-521G>T	XP_016873158.1:n.-521G>T
XM_017017671.2:c.393G>T	XP_016873160.1:p.Glu131Asp
XR_949903.3:n.491G>T
NM_002180.3:c.393G>T MANE Select	NP_002171.2:p.Glu131Asp