Canonical Allele Identifier: CA475280831

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2923989
• ClinVar RCV Id: RCV003783547
• dbSNP Id: rs1215678700
• gnomAD v3: 11-68936853-A-T
• gnomAD v4: 11-68936853-A-T
• MyVariant Identifiers: chr11:g.68704321A>T (hg19) ; chr11:g.68936853A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936853A>T , CM000673.2:g.68936853A>T	GRCh38
NC_000011.9:g.68704321A>T , CM000673.1:g.68704321A>T	GRCh37
NC_000011.8:g.68460897A>T	NCBI36
NG_007976.1:g.38003A>T , LRG_250:g.38003A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2373A>T MANE Select	ENSP00000255078.4:p.Ala791=
ENST00000674675.1:c.587+30A>T
ENST00000674878.1:c.548-70A>T
ENST00000674955.1:c.*1090A>T	ENSP00000502463.1:n.*1090A>T
ENST00000675118.1:c.1861A>T
ENST00000675389.1:n.648A>T
ENST00000675615.1:c.2373A>T	ENSP00000502413.1:p.Ala791=
ENST00000675648.1:n.1748A>T
ENST00000675916.1:c.617A>T
ENST00000676173.1:n.3118A>T
ENST00000676182.1:c.804A>T
ENST00000676228.1:c.*1696A>T	ENSP00000502375.1:n.*1696A>T
ENST00000255078.7:c.2373A>T	ENSP00000255078.3:p.Ala791=
ENST00000539064.5:n.2132A>T
ENST00000543739.5:n.1366A>T
NM_002180.2:c.2373A>T , LRG_250t1:c.2373A>T	NP_002171.2:p.Ala791=
XM_005273974.2:c.1362A>T	XP_005274031.1:p.Ala454=
XM_005273975.2:c.1245A>T	XP_005274032.1:p.Ala415=
XM_011544994.1:c.1140A>T	XP_011543296.1:p.Ala380=
XR_949903.1:n.2475A>T
XM_005273975.3:c.1245A>T	XP_005274032.1:p.Ala415=
XM_017017669.2:c.1362A>T	XP_016873158.1:p.Ala454=
XM_017017670.2:c.1362A>T	XP_016873159.1:p.Ala454=
XR_949903.3:n.2471A>T
NM_002180.3:c.2373A>T MANE Select	NP_002171.2:p.Ala791=