Canonical Allele Identifier: CA6153803

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 234691
• ClinVar RCV Id: RCV000218079 ; RCV001238058
• dbSNP Id: rs747465472
• ExAC: 11:68703861 C / T
• gnomAD v2: 11-68703861-C-T
• gnomAD v3: 11-68936393-C-T
• gnomAD v4: 11-68936393-C-T
• MyVariant Identifiers: chr11:g.68703861C>T (hg19) ; chr11:g.68936393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936393C>T , CM000673.2:g.68936393C>T	GRCh38
NC_000011.9:g.68703861C>T , CM000673.1:g.68703861C>T	GRCh37
NC_000011.8:g.68460437C>T	NCBI36
NG_007976.1:g.37543C>T , LRG_250:g.37543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1913C>T MANE Select	ENSP00000255078.4:p.Thr638Met
ENST00000674675.1:c.157C>T
ENST00000674878.1:c.157C>T
ENST00000674955.1:c.*630C>T	ENSP00000502463.1:n.*630C>T
ENST00000675118.1:c.1401C>T
ENST00000675389.1:n.188C>T
ENST00000675615.1:c.1913C>T	ENSP00000502413.1:p.Thr638Met
ENST00000675648.1:n.1288C>T
ENST00000675916.1:c.157C>T
ENST00000676173.1:n.2658C>T
ENST00000676182.1:c.344C>T
ENST00000676228.1:c.*1236C>T	ENSP00000502375.1:n.*1236C>T
ENST00000255078.7:c.1913C>T	ENSP00000255078.3:p.Thr638Met
ENST00000539064.5:n.1672C>T
ENST00000543739.5:n.906C>T
ENST00000545475.1:n.509C>T
NM_002180.2:c.1913C>T , LRG_250t1:c.1913C>T	NP_002171.2:p.Thr638Met
XM_005273974.2:c.902C>T	XP_005274031.1:p.Thr301Met
XM_005273975.2:c.785C>T	XP_005274032.1:p.Thr262Met
XM_011544994.1:c.680C>T	XP_011543296.1:p.Thr227Met
XR_949903.1:n.2015C>T
XM_005273975.3:c.785C>T	XP_005274032.1:p.Thr262Met
XM_017017669.2:c.902C>T	XP_016873158.1:p.Thr301Met
XM_017017670.2:c.902C>T	XP_016873159.1:p.Thr301Met
XR_949903.3:n.2011C>T
NM_002180.3:c.1913C>T MANE Select	NP_002171.2:p.Thr638Met