Canonical Allele Identifier: CA6153429

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs757076339
• ExAC: 11:68682474 G / A
• gnomAD v2: 11-68682474-G-A
• gnomAD v3: 11-68915006-G-A
• gnomAD v4: 11-68915006-G-A
• MyVariant Identifiers: chr11:g.68682474G>A (hg19) ; chr11:g.68915006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915006G>A , CM000673.2:g.68915006G>A	GRCh38
NC_000011.9:g.68682474G>A , CM000673.1:g.68682474G>A	GRCh37
NC_000011.8:g.68439050G>A	NCBI36
NG_007976.1:g.16156G>A , LRG_250:g.16156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.895G>A MANE Select	ENSP00000255078.4:p.Asp299Asn
ENST00000539224.2:c.1024G>A
ENST00000674955.1:c.895G>A	ENSP00000502463.1:p.Asp299Asn
ENST00000675118.1:c.242G>A
ENST00000675119.1:c.184G>A	ENSP00000501861.1:p.Asp62Asn
ENST00000675305.1:c.184G>A	ENSP00000502365.1:p.Asp62Asn
ENST00000675464.1:c.184G>A	ENSP00000502650.1:p.Asp62Asn
ENST00000675615.1:c.895G>A	ENSP00000502413.1:p.Asp299Asn
ENST00000675683.1:c.282G>A
ENST00000676173.1:n.939G>A
ENST00000676228.1:c.*218G>A	ENSP00000502375.1:n.*218G>A
ENST00000676239.1:n.209G>A
ENST00000255078.7:c.895G>A	ENSP00000255078.3:p.Asp299Asn
NM_002180.2:c.895G>A , LRG_250t1:c.895G>A	NP_002171.2:p.Asp299Asn
XM_005273974.2:c.-117G>A	XP_005274031.1:n.-117G>A
XM_005273976.1:c.895G>A	XP_005274033.1:p.Asp299Asn
XR_247198.1:n.997G>A
XR_949903.1:n.997G>A
XM_005273976.2:c.895G>A	XP_005274033.1:p.Asp299Asn
XM_017017669.2:c.-117G>A	XP_016873158.1:n.-117G>A
XM_017017670.2:c.-117G>A	XP_016873159.1:n.-117G>A
XM_017017671.2:c.895G>A	XP_016873160.1:p.Asp299Asn
XR_949903.3:n.993G>A
NM_002180.3:c.895G>A MANE Select	NP_002171.2:p.Asp299Asn