Canonical Allele Identifier: CA475186410

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908236-G-A
• MyVariant Identifiers: chr11:g.68675704G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908236G>A , CM000673.2:g.68908236G>A	GRCh38
NC_000011.9:g.68675704G>A , CM000673.1:g.68675704G>A	GRCh37
NC_000011.8:g.68432280G>A	NCBI36
NG_007976.1:g.9386G>A , LRG_250:g.9386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.348G>A MANE Select	ENSP00000255078.4:p.Val116=
ENST00000539224.2:c.311G>A
ENST00000674583.1:c.311G>A
ENST00000674597.1:c.159G>A
ENST00000674955.1:c.348G>A	ENSP00000502463.1:p.Val116=
ENST00000675142.1:n.311G>A
ENST00000675469.1:c.224G>A
ENST00000675615.1:c.348G>A	ENSP00000502413.1:p.Val116=
ENST00000675674.1:n.311G>A
ENST00000675873.1:c.311G>A
ENST00000676173.1:n.392G>A
ENST00000676228.1:c.348G>A	ENSP00000502375.1:p.Val116=
ENST00000255078.7:c.348G>A	ENSP00000255078.3:p.Val116=
ENST00000539224.1:c.348G>A	ENSP00000440465.1:p.Val116=
ENST00000544541.1:c.*88G>A	ENSP00000443343.1:n.*88G>A
NM_002180.2:c.348G>A , LRG_250t1:c.348G>A	NP_002171.2:p.Val116=
XM_005273974.2:c.-664G>A	XP_005274031.1:n.-664G>A
XM_005273976.1:c.348G>A	XP_005274033.1:p.Val116=
XR_247198.1:n.450G>A
XR_949903.1:n.450G>A
XM_005273976.2:c.348G>A	XP_005274033.1:p.Val116=
XM_017017669.2:c.-566G>A	XP_016873158.1:n.-566G>A
XM_017017671.2:c.348G>A	XP_016873160.1:p.Val116=
XR_949903.3:n.446G>A
NM_002180.3:c.348G>A MANE Select	NP_002171.2:p.Val116=