Canonical Allele Identifier: CA6153921

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 935270
• ClinVar RCV Id: RCV001203825 ; RCV003132264
• dbSNP Id: rs751046981
• ExAC: 11:68704443 C / T
• gnomAD v2: 11-68704443-C-T
• gnomAD v3: 11-68936975-C-T
• gnomAD v4: 11-68936975-C-T
• MyVariant Identifiers: chr11:g.68704443C>T (hg19) ; chr11:g.68936975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936975C>T , CM000673.2:g.68936975C>T	GRCh38
NC_000011.9:g.68704443C>T , CM000673.1:g.68704443C>T	GRCh37
NC_000011.8:g.68461019C>T	NCBI36
NG_007976.1:g.38125C>T , LRG_250:g.38125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2495C>T MANE Select	ENSP00000255078.4:p.Thr832Met
ENST00000674675.1:c.640C>T
ENST00000674878.1:c.600C>T
ENST00000675118.1:c.1983C>T
ENST00000675389.1:n.770C>T
ENST00000675615.1:c.2495C>T	ENSP00000502413.1:p.Thr832Met
ENST00000675648.1:n.1870C>T
ENST00000675916.1:c.739C>T
ENST00000676173.1:n.3240C>T
ENST00000676182.1:c.926C>T
ENST00000676228.1:c.*1818C>T	ENSP00000502375.1:n.*1818C>T
ENST00000255078.7:c.2495C>T	ENSP00000255078.3:p.Thr832Met
ENST00000539064.5:n.2254C>T
ENST00000543739.5:n.1488C>T
NM_002180.2:c.2495C>T , LRG_250t1:c.2495C>T	NP_002171.2:p.Thr832Met
XM_005273974.2:c.1484C>T	XP_005274031.1:p.Thr495Met
XM_005273975.2:c.1367C>T	XP_005274032.1:p.Thr456Met
XM_011544994.1:c.1262C>T	XP_011543296.1:p.Thr421Met
XR_949903.1:n.2597C>T
XM_005273975.3:c.1367C>T	XP_005274032.1:p.Thr456Met
XM_017017669.2:c.1484C>T	XP_016873158.1:p.Thr495Met
XM_017017670.2:c.1484C>T	XP_016873159.1:p.Thr495Met
XR_949903.3:n.2593C>T
NM_002180.3:c.2495C>T MANE Select	NP_002171.2:p.Thr832Met