Canonical Allele Identifier: CA6153907

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2924242
• ClinVar RCV Id: RCV003785992
• dbSNP Id: rs781002308
• ExAC: 11:68704357 C / T
• gnomAD v2: 11-68704357-C-T
• gnomAD v3: 11-68936889-C-T
• gnomAD v4: 11-68936889-C-T
• MyVariant Identifiers: chr11:g.68704357C>T (hg19) ; chr11:g.68936889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936889C>T , CM000673.2:g.68936889C>T	GRCh38
NC_000011.9:g.68704357C>T , CM000673.1:g.68704357C>T	GRCh37
NC_000011.8:g.68460933C>T	NCBI36
NG_007976.1:g.38039C>T , LRG_250:g.38039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2409C>T MANE Select	ENSP00000255078.4:p.Ala803=
ENST00000674675.1:c.588-34C>T
ENST00000674878.1:c.548-34C>T
ENST00000675118.1:c.1897C>T
ENST00000675389.1:n.684C>T
ENST00000675615.1:c.2409C>T	ENSP00000502413.1:p.Ala803=
ENST00000675648.1:n.1784C>T
ENST00000675916.1:c.653C>T
ENST00000676173.1:n.3154C>T
ENST00000676182.1:c.840C>T
ENST00000676228.1:c.*1732C>T	ENSP00000502375.1:n.*1732C>T
ENST00000255078.7:c.2409C>T	ENSP00000255078.3:p.Ala803=
ENST00000539064.5:n.2168C>T
ENST00000543739.5:n.1402C>T
NM_002180.2:c.2409C>T , LRG_250t1:c.2409C>T	NP_002171.2:p.Ala803=
XM_005273974.2:c.1398C>T	XP_005274031.1:p.Ala466=
XM_005273975.2:c.1281C>T	XP_005274032.1:p.Ala427=
XM_011544994.1:c.1176C>T	XP_011543296.1:p.Ala392=
XR_949903.1:n.2511C>T
XM_005273975.3:c.1281C>T	XP_005274032.1:p.Ala427=
XM_017017669.2:c.1398C>T	XP_016873158.1:p.Ala466=
XM_017017670.2:c.1398C>T	XP_016873159.1:p.Ala466=
XR_949903.3:n.2507C>T
NM_002180.3:c.2409C>T MANE Select	NP_002171.2:p.Ala803=