Canonical Allele Identifier: CA6154002

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 258573
• ClinVar RCV Id: RCV000244618 ; RCV000288957 ; RCV000554374 ; RCV000712264 ; RCV001173369
• dbSNP Id: rs2275996
• ExAC: 11:68705820 G / A
• gnomAD v2: 11-68705820-G-A
• gnomAD v3: 11-68938352-G-A
• gnomAD v4: 11-68938352-G-A
• MyVariant Identifiers: chr11:g.68705820G>A (hg19) ; chr11:g.68938352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68938352G>A , CM000673.2:g.68938352G>A	GRCh38
NC_000011.9:g.68705820G>A , CM000673.1:g.68705820G>A	GRCh37
NC_000011.8:g.68462396G>A	NCBI36
NG_007976.1:g.39502G>A , LRG_250:g.39502G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2782G>A MANE Select	ENSP00000255078.4:p.Glu928Lys
ENST00000674675.1:c.927G>A
ENST00000674878.1:c.887G>A
ENST00000675118.1:c.2270G>A
ENST00000675615.1:c.2612-1182G>A	ENSP00000502413.1:n.2612-1182G>A
ENST00000675648.1:n.2157G>A
ENST00000675916.1:c.1026G>A
ENST00000676173.1:n.3527G>A
ENST00000255078.7:c.2782G>A	ENSP00000255078.3:p.Glu928Lys
ENST00000543739.5:n.1775G>A
ENST00000544521.1:n.613G>A
NM_002180.2:c.2782G>A , LRG_250t1:c.2782G>A	NP_002171.2:p.Glu928Lys
XM_005273974.2:c.1771G>A	XP_005274031.1:p.Glu591Lys
XM_005273975.2:c.1654G>A	XP_005274032.1:p.Glu552Lys
XM_011544994.1:c.1549G>A	XP_011543296.1:p.Glu517Lys
XR_949903.1:n.2884G>A
XM_005273975.3:c.1654G>A	XP_005274032.1:p.Glu552Lys
XM_017017669.2:c.1771G>A	XP_016873158.1:p.Glu591Lys
XM_017017670.2:c.1771G>A	XP_016873159.1:p.Glu591Lys
XR_949903.3:n.2880G>A
NM_002180.3:c.2782G>A MANE Select	NP_002171.2:p.Glu928Lys