Canonical Allele Identifier: CA6153250

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 566499
• ClinVar RCV Id: RCV000686328
• dbSNP Id: rs760004229
• ExAC: 11:68675642 A / G
• gnomAD v2: 11-68675642-A-G
• gnomAD v4: 11-68908174-A-G
• MyVariant Identifiers: chr11:g.68675642A>G (hg19) ; chr11:g.68908174A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908174A>G , CM000673.2:g.68908174A>G	GRCh38
NC_000011.9:g.68675642A>G , CM000673.1:g.68675642A>G	GRCh37
NC_000011.8:g.68432218A>G	NCBI36
NG_007976.1:g.9324A>G , LRG_250:g.9324A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.286A>G MANE Select	ENSP00000255078.4:p.Asn96Asp
ENST00000539224.2:c.249A>G
ENST00000674583.1:c.249A>G
ENST00000674597.1:c.97A>G
ENST00000674955.1:c.286A>G	ENSP00000502463.1:p.Asn96Asp
ENST00000675142.1:n.249A>G
ENST00000675469.1:c.162A>G
ENST00000675615.1:c.286A>G	ENSP00000502413.1:p.Asn96Asp
ENST00000675674.1:n.249A>G
ENST00000675873.1:c.249A>G
ENST00000676173.1:n.330A>G
ENST00000676228.1:c.286A>G	ENSP00000502375.1:p.Asn96Asp
ENST00000255078.7:c.286A>G	ENSP00000255078.3:p.Asn96Asp
ENST00000539224.1:c.286A>G	ENSP00000440465.1:p.Asn96Asp
ENST00000544541.1:c.*26A>G	ENSP00000443343.1:n.*26A>G
ENST00000545146.1:c.*156A>G	ENSP00000456366.1:n.*156A>G
NM_002180.2:c.286A>G , LRG_250t1:c.286A>G	NP_002171.2:p.Asn96Asp
XM_005273974.2:c.-726A>G	XP_005274031.1:n.-726A>G
XM_005273976.1:c.286A>G	XP_005274033.1:p.Asn96Asp
XR_247198.1:n.388A>G
XR_949903.1:n.388A>G
XM_005273976.2:c.286A>G	XP_005274033.1:p.Asn96Asp
XM_017017669.2:c.-628A>G	XP_016873158.1:n.-628A>G
XM_017017671.2:c.286A>G	XP_016873160.1:p.Asn96Asp
XR_949903.3:n.384A>G
NM_002180.3:c.286A>G MANE Select	NP_002171.2:p.Asn96Asp