Canonical Allele Identifier: CA6153836

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs77807333
• ExAC: 11:68704038 C / A
• gnomAD v2: 11-68704038-C-A
• MyVariant Identifiers: chr11:g.68704038C>A (hg19) ; chr11:g.68936570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936570C>A , CM000673.2:g.68936570C>A	GRCh38
NC_000011.9:g.68704038C>A , CM000673.1:g.68704038C>A	GRCh37
NC_000011.8:g.68460614C>A	NCBI36
NG_007976.1:g.37720C>A , LRG_250:g.37720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2090C>A MANE Select	ENSP00000255078.4:p.Pro697Gln
ENST00000674675.1:c.334C>A
ENST00000674878.1:c.334C>A
ENST00000674955.1:c.*807C>A	ENSP00000502463.1:n.*807C>A
ENST00000675118.1:c.1578C>A
ENST00000675389.1:n.365C>A
ENST00000675615.1:c.2090C>A	ENSP00000502413.1:p.Pro697Gln
ENST00000675648.1:n.1465C>A
ENST00000675916.1:c.334C>A
ENST00000676173.1:n.2835C>A
ENST00000676182.1:c.521C>A
ENST00000676228.1:c.*1413C>A	ENSP00000502375.1:n.*1413C>A
ENST00000255078.7:c.2090C>A	ENSP00000255078.3:p.Pro697Gln
ENST00000539064.5:n.1849C>A
ENST00000543739.5:n.1083C>A
NM_002180.2:c.2090C>A , LRG_250t1:c.2090C>A	NP_002171.2:p.Pro697Gln
XM_005273974.2:c.1079C>A	XP_005274031.1:p.Pro360Gln
XM_005273975.2:c.962C>A	XP_005274032.1:p.Pro321Gln
XM_011544994.1:c.857C>A	XP_011543296.1:p.Pro286Gln
XR_949903.1:n.2192C>A
XM_005273975.3:c.962C>A	XP_005274032.1:p.Pro321Gln
XM_017017669.2:c.1079C>A	XP_016873158.1:p.Pro360Gln
XM_017017670.2:c.1079C>A	XP_016873159.1:p.Pro360Gln
XR_949903.3:n.2188C>A
NM_002180.3:c.2090C>A MANE Select	NP_002171.2:p.Pro697Gln