Canonical Allele Identifier: CA475280714

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2939624
• ClinVar RCV Id: RCV003794790
• gnomAD v4: 11-68936710-T-C
• MyVariant Identifiers: chr11:g.68704178T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936710T>C , CM000673.2:g.68936710T>C	GRCh38
NC_000011.9:g.68704178T>C , CM000673.1:g.68704178T>C	GRCh37
NC_000011.8:g.68460754T>C	NCBI36
NG_007976.1:g.37860T>C , LRG_250:g.37860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2230T>C MANE Select	ENSP00000255078.4:p.Leu744=
ENST00000674675.1:c.474T>C
ENST00000674878.1:c.474T>C
ENST00000674955.1:c.*947T>C	ENSP00000502463.1:n.*947T>C
ENST00000675118.1:c.1718T>C
ENST00000675389.1:n.505T>C
ENST00000675615.1:c.2230T>C	ENSP00000502413.1:p.Leu744=
ENST00000675648.1:n.1605T>C
ENST00000675916.1:c.474T>C
ENST00000676173.1:n.2975T>C
ENST00000676182.1:c.661T>C
ENST00000676228.1:c.*1553T>C	ENSP00000502375.1:n.*1553T>C
ENST00000255078.7:c.2230T>C	ENSP00000255078.3:p.Leu744=
ENST00000539064.5:n.1989T>C
ENST00000543739.5:n.1223T>C
NM_002180.2:c.2230T>C , LRG_250t1:c.2230T>C	NP_002171.2:p.Leu744=
XM_005273974.2:c.1219T>C	XP_005274031.1:p.Leu407=
XM_005273975.2:c.1102T>C	XP_005274032.1:p.Leu368=
XM_011544994.1:c.997T>C	XP_011543296.1:p.Leu333=
XR_949903.1:n.2332T>C
XM_005273975.3:c.1102T>C	XP_005274032.1:p.Leu368=
XM_017017669.2:c.1219T>C	XP_016873158.1:p.Leu407=
XM_017017670.2:c.1219T>C	XP_016873159.1:p.Leu407=
XR_949903.3:n.2328T>C
NM_002180.3:c.2230T>C MANE Select	NP_002171.2:p.Leu744=