Canonical Allele Identifier: CA6153795

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 246412
• ClinVar RCV Id: RCV000235564
• dbSNP Id: rs756289160
• ExAC: 11:68703797 G / A
• gnomAD v2: 11-68703797-G-A
• gnomAD v4: 11-68936329-G-A
• MyVariant Identifiers: chr11:g.68703797G>A (hg19) ; chr11:g.68936329G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936329G>A , CM000673.2:g.68936329G>A	GRCh38
NC_000011.9:g.68703797G>A , CM000673.1:g.68703797G>A	GRCh37
NC_000011.8:g.68460373G>A	NCBI36
NG_007976.1:g.37479G>A , LRG_250:g.37479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1849G>A MANE Select	ENSP00000255078.4:p.Val617Ile
ENST00000674675.1:c.93G>A
ENST00000674878.1:c.93G>A
ENST00000674955.1:c.*566G>A	ENSP00000502463.1:n.*566G>A
ENST00000675118.1:c.1337G>A
ENST00000675389.1:n.124G>A
ENST00000675615.1:c.1849G>A	ENSP00000502413.1:p.Val617Ile
ENST00000675648.1:n.1224G>A
ENST00000675916.1:c.93G>A
ENST00000676173.1:n.2594G>A
ENST00000676182.1:c.280G>A
ENST00000676228.1:c.*1172G>A	ENSP00000502375.1:n.*1172G>A
ENST00000255078.7:c.1849G>A	ENSP00000255078.3:p.Val617Ile
ENST00000539064.5:n.1608G>A
ENST00000541229.5:n.544G>A
ENST00000543739.5:n.842G>A
ENST00000545475.1:n.445G>A
NM_002180.2:c.1849G>A , LRG_250t1:c.1849G>A	NP_002171.2:p.Val617Ile
XM_005273974.2:c.838G>A	XP_005274031.1:p.Val280Ile
XM_005273975.2:c.721G>A	XP_005274032.1:p.Val241Ile
XM_011544994.1:c.616G>A	XP_011543296.1:p.Val206Ile
XR_949903.1:n.1951G>A
XM_005273975.3:c.721G>A	XP_005274032.1:p.Val241Ile
XM_017017669.2:c.838G>A	XP_016873158.1:p.Val280Ile
XM_017017670.2:c.838G>A	XP_016873159.1:p.Val280Ile
XR_949903.3:n.1947G>A
NM_002180.3:c.1849G>A MANE Select	NP_002171.2:p.Val617Ile