Canonical Allele Identifier: CA223413557

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1057131188
• gnomAD v4: 11-68936765-C-A
• MyVariant Identifiers: chr11:g.68704233C>A (hg19) ; chr11:g.68936765C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936765C>A , CM000673.2:g.68936765C>A	GRCh38
NC_000011.9:g.68704233C>A , CM000673.1:g.68704233C>A	GRCh37
NC_000011.8:g.68460809C>A	NCBI36
NG_007976.1:g.37915C>A , LRG_250:g.37915C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2285C>A MANE Select	ENSP00000255078.4:p.Ala762Asp
ENST00000674675.1:c.529C>A
ENST00000674878.1:c.529C>A
ENST00000674955.1:c.*1002C>A	ENSP00000502463.1:n.*1002C>A
ENST00000675118.1:c.1773C>A
ENST00000675389.1:n.560C>A
ENST00000675615.1:c.2285C>A	ENSP00000502413.1:p.Ala762Asp
ENST00000675648.1:n.1660C>A
ENST00000675916.1:c.529C>A
ENST00000676173.1:n.3030C>A
ENST00000676182.1:c.716C>A
ENST00000676228.1:c.*1608C>A	ENSP00000502375.1:n.*1608C>A
ENST00000255078.7:c.2285C>A	ENSP00000255078.3:p.Ala762Asp
ENST00000539064.5:n.2044C>A
ENST00000543739.5:n.1278C>A
NM_002180.2:c.2285C>A , LRG_250t1:c.2285C>A	NP_002171.2:p.Ala762Asp
XM_005273974.2:c.1274C>A	XP_005274031.1:p.Ala425Asp
XM_005273975.2:c.1157C>A	XP_005274032.1:p.Ala386Asp
XM_011544994.1:c.1052C>A	XP_011543296.1:p.Ala351Asp
XR_949903.1:n.2387C>A
XM_005273975.3:c.1157C>A	XP_005274032.1:p.Ala386Asp
XM_017017669.2:c.1274C>A	XP_016873158.1:p.Ala425Asp
XM_017017670.2:c.1274C>A	XP_016873159.1:p.Ala425Asp
XR_949903.3:n.2383C>A
NM_002180.3:c.2285C>A MANE Select	NP_002171.2:p.Ala762Asp