Canonical Allele Identifier: CA211922

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 162198
• ClinVar RCV Id: RCV000149578 ; RCV000236327 ; RCV002390317
• dbSNP Id: rs724159960
• ExAC: 11:68701976 G / A
• gnomAD v2: 11-68701976-G-A
• gnomAD v4: 11-68934508-G-A
• MyVariant Identifiers: chr11:g.68701976G>A (hg19) ; chr11:g.68934508G>A (hg38)
• PubMed: PMID:25439726

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934508G>A , CM000673.2:g.68934508G>A	GRCh38
NC_000011.9:g.68701976G>A , CM000673.1:g.68701976G>A	GRCh37
NC_000011.8:g.68458552G>A	NCBI36
NG_007976.1:g.35658G>A , LRG_250:g.35658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1582G>A MANE Select	ENSP00000255078.4:p.Ala528Thr
ENST00000674672.1:n.45G>A
ENST00000674955.1:c.*299G>A	ENSP00000502463.1:n.*299G>A
ENST00000675118.1:c.1070G>A
ENST00000675205.1:n.228G>A
ENST00000675615.1:c.1582G>A	ENSP00000502413.1:p.Ala528Thr
ENST00000675648.1:n.957G>A
ENST00000675964.1:n.45G>A
ENST00000675997.1:n.157G>A
ENST00000676173.1:n.2327G>A
ENST00000676182.1:c.45G>A
ENST00000676228.1:c.*905G>A	ENSP00000502375.1:n.*905G>A
ENST00000255078.7:c.1582G>A	ENSP00000255078.3:p.Ala528Thr
ENST00000539064.5:n.1341G>A
ENST00000541229.5:n.277G>A
ENST00000543739.5:n.699G>A
ENST00000545475.1:n.178G>A
NM_002180.2:c.1582G>A , LRG_250t1:c.1582G>A	NP_002171.2:p.Ala528Thr
XM_005273974.2:c.571G>A	XP_005274031.1:p.Ala191Thr
XM_005273975.2:c.454G>A	XP_005274032.1:p.Ala152Thr
XM_011544994.1:c.349G>A	XP_011543296.1:p.Ala117Thr
XR_949903.1:n.1684G>A
XM_005273975.3:c.454G>A	XP_005274032.1:p.Ala152Thr
XM_017017669.2:c.571G>A	XP_016873158.1:p.Ala191Thr
XM_017017670.2:c.571G>A	XP_016873159.1:p.Ala191Thr
XM_017017671.2:c.1582G>A	XP_016873160.1:p.Ala528Thr
XR_949903.3:n.1680G>A
NM_002180.3:c.1582G>A MANE Select	NP_002171.2:p.Ala528Thr