Canonical Allele Identifier: CA381652065

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936420-T-A
• MyVariant Identifiers: chr11:g.68703888T>A (hg19) ; chr11:g.68936420T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936420T>A , CM000673.2:g.68936420T>A	GRCh38
NC_000011.9:g.68703888T>A , CM000673.1:g.68703888T>A	GRCh37
NC_000011.8:g.68460464T>A	NCBI36
NG_007976.1:g.37570T>A , LRG_250:g.37570T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1940T>A MANE Select	ENSP00000255078.4:p.Val647Asp
ENST00000674675.1:c.184T>A
ENST00000674878.1:c.184T>A
ENST00000674955.1:c.*657T>A	ENSP00000502463.1:n.*657T>A
ENST00000675118.1:c.1428T>A
ENST00000675389.1:n.215T>A
ENST00000675615.1:c.1940T>A	ENSP00000502413.1:p.Val647Asp
ENST00000675648.1:n.1315T>A
ENST00000675916.1:c.184T>A
ENST00000676173.1:n.2685T>A
ENST00000676182.1:c.371T>A
ENST00000676228.1:c.*1263T>A	ENSP00000502375.1:n.*1263T>A
ENST00000255078.7:c.1940T>A	ENSP00000255078.3:p.Val647Asp
ENST00000539064.5:n.1699T>A
ENST00000543739.5:n.933T>A
ENST00000545475.1:n.536T>A
NM_002180.2:c.1940T>A , LRG_250t1:c.1940T>A	NP_002171.2:p.Val647Asp
XM_005273974.2:c.929T>A	XP_005274031.1:p.Val310Asp
XM_005273975.2:c.812T>A	XP_005274032.1:p.Val271Asp
XM_011544994.1:c.707T>A	XP_011543296.1:p.Val236Asp
XR_949903.1:n.2042T>A
XM_005273975.3:c.812T>A	XP_005274032.1:p.Val271Asp
XM_017017669.2:c.929T>A	XP_016873158.1:p.Val310Asp
XM_017017670.2:c.929T>A	XP_016873159.1:p.Val310Asp
XR_949903.3:n.2038T>A
NM_002180.3:c.1940T>A MANE Select	NP_002171.2:p.Val647Asp