Canonical Allele Identifier: CA10605930

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 287977
• ClinVar RCV Id: RCV000596478 ; RCV000819925
• dbSNP Id: rs886043773
• gnomAD v2: 11-68685351-G-A
• gnomAD v3: 11-68917883-G-A
• gnomAD v4: 11-68917883-G-A
• MyVariant Identifiers: chr11:g.68685351G>A (hg19) ; chr11:g.68917883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917883G>A , CM000673.2:g.68917883G>A	GRCh38
NC_000011.9:g.68685351G>A , CM000673.1:g.68685351G>A	GRCh37
NC_000011.8:g.68441927G>A	NCBI36
NG_007976.1:g.19033G>A , LRG_250:g.19033G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.1060G>A MANE Select	ENSP00000255078.4:p.Gly354Ser
ENST00000674745.1:c.148G>A	ENSP00000502738.1:p.Ala50Thr
ENST00000674775.1:n.148G>A
ENST00000674955.1:c.1060G>A	ENSP00000502463.1:p.Gly354Ser
ENST00000675118.1:c.548G>A
ENST00000675119.1:c.487G>A	ENSP00000501861.1:n.487G>A
ENST00000675305.1:c.380G>A	ENSP00000502365.1:n.380G>A
ENST00000675464.1:c.343G>A
ENST00000675493.1:n.148G>A
ENST00000675615.1:c.1060G>A	ENSP00000502413.1:p.Gly354Ser
ENST00000675648.1:n.435G>A
ENST00000675683.1:c.447G>A
ENST00000675684.1:c.148G>A	ENSP00000502192.1:p.Ala50Thr
ENST00000676173.1:n.1104G>A
ENST00000676228.1:c.*383G>A	ENSP00000502375.1:n.*383G>A
ENST00000255078.7:c.1060G>A	ENSP00000255078.3:p.Gly354Ser
NM_002180.2:c.1060G>A , LRG_250t1:c.1060G>A	NP_002171.2:p.Gly354Ser
XM_005273974.2:c.49G>A	XP_005274031.1:p.Gly17Ser
XM_005273976.1:c.1060G>A	XP_005274033.1:p.Gly354Ser
XR_247198.1:n.1162G>A
XR_949903.1:n.1162G>A
XM_005273976.2:c.1060G>A	XP_005274033.1:p.Gly354Ser
XM_017017669.2:c.49G>A	XP_016873158.1:p.Gly17Ser
XM_017017670.2:c.49G>A	XP_016873159.1:p.Gly17Ser
XM_017017671.2:c.1060G>A	XP_016873160.1:p.Gly354Ser
XR_949903.3:n.1158G>A
NM_002180.3:c.1060G>A MANE Select	NP_002171.2:p.Gly354Ser