Canonical Allele Identifier: CA475204398

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 511434
• ClinVar RCV Id: RCV000616671 ; RCV002532744 ; RCV002413729
• dbSNP Id: rs1555247971
• MyVariant Identifiers: chr11:g.68703871G>A (hg19) ; chr11:g.68936403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936403G>A , CM000673.2:g.68936403G>A	GRCh38
NC_000011.9:g.68703871G>A , CM000673.1:g.68703871G>A	GRCh37
NC_000011.8:g.68460447G>A	NCBI36
NG_007976.1:g.37553G>A , LRG_250:g.37553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1923G>A MANE Select	ENSP00000255078.4:p.Glu641=
ENST00000674675.1:c.167G>A
ENST00000674878.1:c.167G>A
ENST00000674955.1:c.*640G>A	ENSP00000502463.1:n.*640G>A
ENST00000675118.1:c.1411G>A
ENST00000675389.1:n.198G>A
ENST00000675615.1:c.1923G>A	ENSP00000502413.1:p.Glu641=
ENST00000675648.1:n.1298G>A
ENST00000675916.1:c.167G>A
ENST00000676173.1:n.2668G>A
ENST00000676182.1:c.354G>A
ENST00000676228.1:c.*1246G>A	ENSP00000502375.1:n.*1246G>A
ENST00000255078.7:c.1923G>A	ENSP00000255078.3:p.Glu641=
ENST00000539064.5:n.1682G>A
ENST00000543739.5:n.916G>A
ENST00000545475.1:n.519G>A
NM_002180.2:c.1923G>A , LRG_250t1:c.1923G>A	NP_002171.2:p.Glu641=
XM_005273974.2:c.912G>A	XP_005274031.1:p.Glu304=
XM_005273975.2:c.795G>A	XP_005274032.1:p.Glu265=
XM_011544994.1:c.690G>A	XP_011543296.1:p.Glu230=
XR_949903.1:n.2025G>A
XM_005273975.3:c.795G>A	XP_005274032.1:p.Glu265=
XM_017017669.2:c.912G>A	XP_016873158.1:p.Glu304=
XM_017017670.2:c.912G>A	XP_016873159.1:p.Glu304=
XR_949903.3:n.2021G>A
NM_002180.3:c.1923G>A MANE Select	NP_002171.2:p.Glu641=