Canonical Allele Identifier: CA223385598

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1551102
• ClinVar RCV Id: RCV002192193
• dbSNP Id: rs756861635
• gnomAD v2: 11-68675698-C-A
• gnomAD v3: 11-68908230-C-A
• gnomAD v4: 11-68908230-C-A
• MyVariant Identifiers: chr11:g.68675698C>A (hg19) ; chr11:g.68908230C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908230C>A , CM000673.2:g.68908230C>A	GRCh38
NC_000011.9:g.68675698C>A , CM000673.1:g.68675698C>A	GRCh37
NC_000011.8:g.68432274C>A	NCBI36
NG_007976.1:g.9380C>A , LRG_250:g.9380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.342C>A MANE Select	ENSP00000255078.4:p.Val114=
ENST00000539224.2:c.305C>A
ENST00000674583.1:c.305C>A
ENST00000674597.1:c.153C>A
ENST00000674955.1:c.342C>A	ENSP00000502463.1:p.Val114=
ENST00000675142.1:n.305C>A
ENST00000675469.1:c.218C>A
ENST00000675615.1:c.342C>A	ENSP00000502413.1:p.Val114=
ENST00000675674.1:n.305C>A
ENST00000675873.1:c.305C>A
ENST00000676173.1:n.386C>A
ENST00000676228.1:c.342C>A	ENSP00000502375.1:p.Val114=
ENST00000255078.7:c.342C>A	ENSP00000255078.3:p.Val114=
ENST00000539224.1:c.342C>A	ENSP00000440465.1:p.Val114=
ENST00000544541.1:c.*82C>A	ENSP00000443343.1:n.*82C>A
NM_002180.2:c.342C>A , LRG_250t1:c.342C>A	NP_002171.2:p.Val114=
XM_005273974.2:c.-670C>A	XP_005274031.1:n.-670C>A
XM_005273976.1:c.342C>A	XP_005274033.1:p.Val114=
XR_247198.1:n.444C>A
XR_949903.1:n.444C>A
XM_005273976.2:c.342C>A	XP_005274033.1:p.Val114=
XM_017017669.2:c.-572C>A	XP_016873158.1:n.-572C>A
XM_017017671.2:c.342C>A	XP_016873160.1:p.Val114=
XR_949903.3:n.440C>A
NM_002180.3:c.342C>A MANE Select	NP_002171.2:p.Val114=