Canonical Allele Identifier: CA223386208

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1931010
• ClinVar RCV Id: RCV002631354
• dbSNP Id: rs776573019
• gnomAD v3: 11-68908646-G-A
• gnomAD v4: 11-68908646-G-A
• MyVariant Identifiers: chr11:g.68676114G>A (hg19) ; chr11:g.68908646G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908646G>A , CM000673.2:g.68908646G>A	GRCh38
NC_000011.9:g.68676114G>A , CM000673.1:g.68676114G>A	GRCh37
NC_000011.8:g.68432690G>A	NCBI36
NG_007976.1:g.9796G>A , LRG_250:g.9796G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.547+15G>A MANE Select	ENSP00000255078.4:n.547+15G>A
ENST00000539224.2:c.510+15G>A
ENST00000674583.1:c.510+15G>A
ENST00000674955.1:c.547+15G>A	ENSP00000502463.1:n.547+15G>A
ENST00000675142.1:n.510+15G>A
ENST00000675615.1:c.547+15G>A	ENSP00000502413.1:n.547+15G>A
ENST00000675674.1:n.510+15G>A
ENST00000675683.1:c.98+15G>A
ENST00000675873.1:c.510+15G>A
ENST00000676173.1:n.591+15G>A
ENST00000676228.1:c.449+309G>A	ENSP00000502375.1:n.449+309G>A
ENST00000255078.7:c.547+15G>A	ENSP00000255078.3:n.547+15G>A
ENST00000539224.1:c.449+309G>A	ENSP00000440465.1:n.449+309G>A
ENST00000544541.1:c.*287+15G>A	ENSP00000443343.1:n.*287+15G>A
NM_002180.2:c.547+15G>A , LRG_250t1:c.547+15G>A	NP_002171.2:n.547+15G>A
XM_005273974.2:c.-465+15G>A	XP_005274031.1:n.-465+15G>A
XM_005273976.1:c.547+15G>A	XP_005274033.1:n.547+15G>A
XR_247198.1:n.649+15G>A
XR_949903.1:n.649+15G>A
XM_005273976.2:c.547+15G>A	XP_005274033.1:n.547+15G>A
XM_017017669.2:c.-465+309G>A	XP_016873158.1:n.-465+309G>A
XM_017017671.2:c.547+15G>A	XP_016873160.1:n.547+15G>A
XR_949903.3:n.645+15G>A
NM_002180.3:c.547+15G>A MANE Select	NP_002171.2:n.547+15G>A