Canonical Allele Identifier: CA16042766

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 373749
• ClinVar RCV Id: RCV000412903 ; RCV000754569 ; RCV000642629
• dbSNP Id: rs1057518588
• gnomAD v2: 11-68676100-G-A
• gnomAD v3: 11-68908632-G-A
• gnomAD v4: 11-68908632-G-A
• MyVariant Identifiers: chr11:g.68676100G>A (hg19) ; chr11:g.68908632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908632G>A , CM000673.2:g.68908632G>A	GRCh38
NC_000011.9:g.68676100G>A , CM000673.1:g.68676100G>A	GRCh37
NC_000011.8:g.68432676G>A	NCBI36
NG_007976.1:g.9782G>A , LRG_250:g.9782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.547+1G>A MANE Select	ENSP00000255078.4:n.547+1G>A
ENST00000539224.2:c.510+1G>A
ENST00000674583.1:c.510+1G>A
ENST00000674955.1:c.547+1G>A	ENSP00000502463.1:n.547+1G>A
ENST00000675142.1:n.510+1G>A
ENST00000675615.1:c.547+1G>A	ENSP00000502413.1:n.547+1G>A
ENST00000675674.1:n.510+1G>A
ENST00000675683.1:c.98+1G>A
ENST00000675873.1:c.510+1G>A
ENST00000676173.1:n.591+1G>A
ENST00000676228.1:c.449+295G>A	ENSP00000502375.1:n.449+295G>A
ENST00000255078.7:c.547+1G>A	ENSP00000255078.3:n.547+1G>A
ENST00000539224.1:c.449+295G>A	ENSP00000440465.1:n.449+295G>A
ENST00000544541.1:c.*287+1G>A	ENSP00000443343.1:n.*287+1G>A
NM_002180.2:c.547+1G>A , LRG_250t1:c.547+1G>A	NP_002171.2:n.547+1G>A
XM_005273974.2:c.-465+1G>A	XP_005274031.1:n.-465+1G>A
XM_005273976.1:c.547+1G>A	XP_005274033.1:n.547+1G>A
XR_247198.1:n.649+1G>A
XR_949903.1:n.649+1G>A
XM_005273976.2:c.547+1G>A	XP_005274033.1:n.547+1G>A
XM_017017669.2:c.-465+295G>A	XP_016873158.1:n.-465+295G>A
XM_017017671.2:c.547+1G>A	XP_016873160.1:n.547+1G>A
XR_949903.3:n.645+1G>A
NM_002180.3:c.547+1G>A MANE Select	NP_002171.2:n.547+1G>A