Canonical Allele Identifier: CA6153522

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 245628
• ClinVar RCV Id: RCV000236775 ; RCV000533172
• dbSNP Id: rs200007067
• ExAC: 11:68696698 G / A
• gnomAD v2: 11-68696698-G-A
• gnomAD v3: 11-68929230-G-A
• gnomAD v4: 11-68929230-G-A
• MyVariant Identifiers: chr11:g.68696698G>A (hg19) ; chr11:g.68929230G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68929230G>A , CM000673.2:g.68929230G>A	GRCh38
NC_000011.9:g.68696698G>A , CM000673.1:g.68696698G>A	GRCh37
NC_000011.8:g.68453274G>A	NCBI36
NG_007976.1:g.30380G>A , LRG_250:g.30380G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.1108G>A MANE Select	ENSP00000255078.4:p.Asp370Asn
ENST00000674698.1:n.48G>A
ENST00000674745.1:c.273G>A	ENSP00000502738.1:n.273G>A
ENST00000674775.1:n.308G>A
ENST00000674955.1:c.1108G>A	ENSP00000502463.1:p.Asp370Asn
ENST00000675118.1:c.596G>A
ENST00000675305.1:c.428G>A	ENSP00000502365.1:n.428G>A
ENST00000675310.1:n.48G>A
ENST00000675493.1:n.269G>A
ENST00000675615.1:c.1108G>A	ENSP00000502413.1:p.Asp370Asn
ENST00000675648.1:n.483G>A
ENST00000675684.1:c.235G>A	ENSP00000502192.1:p.Asp79Asn
ENST00000675755.1:n.48G>A
ENST00000676083.1:n.48G>A
ENST00000676173.1:n.1152G>A
ENST00000676228.1:c.*431G>A	ENSP00000502375.1:n.*431G>A
ENST00000676240.1:n.48G>A
ENST00000676400.1:n.48G>A
ENST00000255078.7:c.1108G>A	ENSP00000255078.3:p.Asp370Asn
ENST00000568742.1:n.218G>A
NM_002180.2:c.1108G>A , LRG_250t1:c.1108G>A	NP_002171.2:p.Asp370Asn
XM_005273974.2:c.97G>A	XP_005274031.1:p.Asp33Asn
XM_005273976.1:c.1108G>A	XP_005274033.1:p.Asp370Asn
XR_247198.1:n.1210G>A
XR_949903.1:n.1210G>A
XM_005273976.2:c.1108G>A	XP_005274033.1:p.Asp370Asn
XM_017017669.2:c.97G>A	XP_016873158.1:p.Asp33Asn
XM_017017670.2:c.97G>A	XP_016873159.1:p.Asp33Asn
XM_017017671.2:c.1108G>A	XP_016873160.1:p.Asp370Asn
XR_949903.3:n.1206G>A
NM_002180.3:c.1108G>A MANE Select	NP_002171.2:p.Asp370Asn