Canonical Allele Identifier: CA6153810

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 245746
• ClinVar RCV Id: RCV000236157 ; RCV000704564
• dbSNP Id: rs775138577
• ExAC: 11:68703881 G / A
• gnomAD v2: 11-68703881-G-A
• gnomAD v3: 11-68936413-G-A
• gnomAD v4: 11-68936413-G-A
• MyVariant Identifiers: chr11:g.68703881G>A (hg19) ; chr11:g.68936413G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936413G>A , CM000673.2:g.68936413G>A	GRCh38
NC_000011.9:g.68703881G>A , CM000673.1:g.68703881G>A	GRCh37
NC_000011.8:g.68460457G>A	NCBI36
NG_007976.1:g.37563G>A , LRG_250:g.37563G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.1933G>A MANE Select	ENSP00000255078.4:p.Asp645Asn
ENST00000674675.1:c.177G>A
ENST00000674878.1:c.177G>A
ENST00000674955.1:c.*650G>A	ENSP00000502463.1:n.*650G>A
ENST00000675118.1:c.1421G>A
ENST00000675389.1:n.208G>A
ENST00000675615.1:c.1933G>A	ENSP00000502413.1:p.Asp645Asn
ENST00000675648.1:n.1308G>A
ENST00000675916.1:c.177G>A
ENST00000676173.1:n.2678G>A
ENST00000676182.1:c.364G>A
ENST00000676228.1:c.*1256G>A	ENSP00000502375.1:n.*1256G>A
ENST00000255078.7:c.1933G>A	ENSP00000255078.3:p.Asp645Asn
ENST00000539064.5:n.1692G>A
ENST00000543739.5:n.926G>A
ENST00000545475.1:n.529G>A
NM_002180.2:c.1933G>A , LRG_250t1:c.1933G>A	NP_002171.2:p.Asp645Asn
XM_005273974.2:c.922G>A	XP_005274031.1:p.Asp308Asn
XM_005273975.2:c.805G>A	XP_005274032.1:p.Asp269Asn
XM_011544994.1:c.700G>A	XP_011543296.1:p.Asp234Asn
XR_949903.1:n.2035G>A
XM_005273975.3:c.805G>A	XP_005274032.1:p.Asp269Asn
XM_017017669.2:c.922G>A	XP_016873158.1:p.Asp308Asn
XM_017017670.2:c.922G>A	XP_016873159.1:p.Asp308Asn
XR_949903.3:n.2031G>A
NM_002180.3:c.1933G>A MANE Select	NP_002171.2:p.Asp645Asn