Canonical Allele Identifier: CA6153924

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 507857
• ClinVar RCV Id: RCV000615737 ; RCV000642654 ; RCV001174190 ; RCV002431770
• dbSNP Id: rs371840404
• ExAC: 11:68704447 G / A
• gnomAD v2: 11-68704447-G-A
• gnomAD v3: 11-68936979-G-A
• gnomAD v4: 11-68936979-G-A
• MyVariant Identifiers: chr11:g.68704447G>A (hg19) ; chr11:g.68936979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936979G>A , CM000673.2:g.68936979G>A	GRCh38
NC_000011.9:g.68704447G>A , CM000673.1:g.68704447G>A	GRCh37
NC_000011.8:g.68461023G>A	NCBI36
NG_007976.1:g.38129G>A , LRG_250:g.38129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2499G>A MANE Select	ENSP00000255078.4:p.Leu833=
ENST00000674675.1:c.644G>A
ENST00000674878.1:c.604G>A
ENST00000675118.1:c.1987G>A
ENST00000675389.1:n.774G>A
ENST00000675615.1:c.2499G>A	ENSP00000502413.1:p.Leu833=
ENST00000675648.1:n.1874G>A
ENST00000675916.1:c.743G>A
ENST00000676173.1:n.3244G>A
ENST00000676182.1:c.930G>A
ENST00000676228.1:c.*1822G>A	ENSP00000502375.1:n.*1822G>A
ENST00000255078.7:c.2499G>A	ENSP00000255078.3:p.Leu833=
ENST00000539064.5:n.2258G>A
ENST00000543739.5:n.1492G>A
NM_002180.2:c.2499G>A , LRG_250t1:c.2499G>A	NP_002171.2:p.Leu833=
XM_005273974.2:c.1488G>A	XP_005274031.1:p.Leu496=
XM_005273975.2:c.1371G>A	XP_005274032.1:p.Leu457=
XM_011544994.1:c.1266G>A	XP_011543296.1:p.Leu422=
XR_949903.1:n.2601G>A
XM_005273975.3:c.1371G>A	XP_005274032.1:p.Leu457=
XM_017017669.2:c.1488G>A	XP_016873158.1:p.Leu496=
XM_017017670.2:c.1488G>A	XP_016873159.1:p.Leu496=
XR_949903.3:n.2597G>A
NM_002180.3:c.2499G>A MANE Select	NP_002171.2:p.Leu833=