Canonical Allele Identifier: CA679627039

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1765924
• ClinVar RCV Id: RCV002378753
• dbSNP Id: rs1210060084
• gnomAD v3: 11-68917731-T-C
• gnomAD v4: 11-68917731-T-C
• MyVariant Identifiers: chr11:g.68685199T>C (hg19) ; chr11:g.68917731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917731T>C , CM000673.2:g.68917731T>C	GRCh38
NC_000011.9:g.68685199T>C , CM000673.1:g.68685199T>C	GRCh37
NC_000011.8:g.68441775T>C	NCBI36
NG_007976.1:g.18881T>C , LRG_250:g.18881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.913-5T>C MANE Select	ENSP00000255078.4:n.913-5T>C
ENST00000539224.2:c.1042-5T>C
ENST00000674955.1:c.913-5T>C	ENSP00000502463.1:n.913-5T>C
ENST00000675118.1:c.401-5T>C
ENST00000675119.1:c.340-5T>C	ENSP00000501861.1:n.340-5T>C
ENST00000675305.1:c.233-5T>C	ENSP00000502365.1:n.233-5T>C
ENST00000675464.1:c.196-5T>C	ENSP00000502650.1:n.196-5T>C
ENST00000675615.1:c.913-5T>C	ENSP00000502413.1:n.913-5T>C
ENST00000675648.1:n.288-5T>C
ENST00000675683.1:c.300-5T>C
ENST00000676173.1:n.957-5T>C
ENST00000676228.1:c.*236-5T>C	ENSP00000502375.1:n.*236-5T>C
ENST00000255078.7:c.913-5T>C	ENSP00000255078.3:n.913-5T>C
NM_002180.2:c.913-5T>C , LRG_250t1:c.913-5T>C	NP_002171.2:n.913-5T>C
XM_005273974.2:c.-99-5T>C	XP_005274031.1:n.-99-5T>C
XM_005273976.1:c.913-5T>C	XP_005274033.1:n.913-5T>C
XR_247198.1:n.1015-5T>C
XR_949903.1:n.1015-5T>C
XM_005273976.2:c.913-5T>C	XP_005274033.1:n.913-5T>C
XM_017017669.2:c.-99-5T>C	XP_016873158.1:n.-99-5T>C
XM_017017670.2:c.-99-5T>C	XP_016873159.1:n.-99-5T>C
XM_017017671.2:c.913-5T>C	XP_016873160.1:n.913-5T>C
XR_949903.3:n.1011-5T>C
NM_002180.3:c.913-5T>C MANE Select	NP_002171.2:n.913-5T>C