Canonical Allele Identifier: CA6153849

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 638830
• ClinVar RCV Id: RCV000791484
• dbSNP Id: rs773046519
• ExAC: 11:68704123 C / T
• gnomAD v2: 11-68704123-C-T
• gnomAD v3: 11-68936655-C-T
• gnomAD v4: 11-68936655-C-T
• COSMIC: COSM3383784
• MyVariant Identifiers: chr11:g.68704123C>T (hg19) ; chr11:g.68936655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936655C>T , CM000673.2:g.68936655C>T	GRCh38
NC_000011.9:g.68704123C>T , CM000673.1:g.68704123C>T	GRCh37
NC_000011.8:g.68460699C>T	NCBI36
NG_007976.1:g.37805C>T , LRG_250:g.37805C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2175C>T MANE Select	ENSP00000255078.4:p.Gly725=
ENST00000674675.1:c.419C>T
ENST00000674878.1:c.419C>T
ENST00000674955.1:c.*892C>T	ENSP00000502463.1:n.*892C>T
ENST00000675118.1:c.1663C>T
ENST00000675389.1:n.450C>T
ENST00000675615.1:c.2175C>T	ENSP00000502413.1:p.Gly725=
ENST00000675648.1:n.1550C>T
ENST00000675916.1:c.419C>T
ENST00000676173.1:n.2920C>T
ENST00000676182.1:c.606C>T
ENST00000676228.1:c.*1498C>T	ENSP00000502375.1:n.*1498C>T
ENST00000255078.7:c.2175C>T	ENSP00000255078.3:p.Gly725=
ENST00000539064.5:n.1934C>T
ENST00000543739.5:n.1168C>T
NM_002180.2:c.2175C>T , LRG_250t1:c.2175C>T	NP_002171.2:p.Gly725=
XM_005273974.2:c.1164C>T	XP_005274031.1:p.Gly388=
XM_005273975.2:c.1047C>T	XP_005274032.1:p.Gly349=
XM_011544994.1:c.942C>T	XP_011543296.1:p.Gly314=
XR_949903.1:n.2277C>T
XM_005273975.3:c.1047C>T	XP_005274032.1:p.Gly349=
XM_017017669.2:c.1164C>T	XP_016873158.1:p.Gly388=
XM_017017670.2:c.1164C>T	XP_016873159.1:p.Gly388=
XR_949903.3:n.2273C>T
NM_002180.3:c.2175C>T MANE Select	NP_002171.2:p.Gly725=