Canonical Allele Identifier: CA658797697

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 522869
• ClinVar RCV Id: RCV000626052 ; RCV002225695 ; RCV003767835
• dbSNP Id: rs1202430946
• MyVariant Identifiers: chr11:g.68697719C>A (hg19) ; chr11:g.68930251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68930251C>A , CM000673.2:g.68930251C>A	GRCh38
NC_000011.9:g.68697719C>A , CM000673.1:g.68697719C>A	GRCh37
NC_000011.8:g.68454295C>A	NCBI36
NG_007976.1:g.31401C>A , LRG_250:g.31401C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1235+894C>A MANE Select	ENSP00000255078.4:n.1235+894C>A
ENST00000674698.1:n.176-107C>A
ENST00000674955.1:c.1236-72C>A	ENSP00000502463.1:n.1236-72C>A
ENST00000675118.1:c.723+894C>A
ENST00000675310.1:n.175+894C>A
ENST00000675615.1:c.1235+894C>A	ENSP00000502413.1:n.1235+894C>A
ENST00000675648.1:n.610+894C>A
ENST00000675755.1:n.645C>A
ENST00000676083.1:n.679C>A
ENST00000676173.1:n.1797C>A
ENST00000676228.1:c.*558+894C>A	ENSP00000502375.1:n.*558+894C>A
ENST00000255078.7:c.1235+894C>A	ENSP00000255078.3:n.1235+894C>A
ENST00000536803.1:n.161C>A
ENST00000568742.1:n.346-72C>A
NM_002180.2:c.1235+894C>A , LRG_250t1:c.1235+894C>A	NP_002171.2:n.1235+894C>A
XM_005273974.2:c.224+894C>A	XP_005274031.1:n.224+894C>A
XM_005273975.2:c.-77C>A	XP_005274032.1:n.-77C>A
XM_005273976.1:c.*130C>A	XP_005274033.1:n.*130C>A
XR_247198.1:n.1855C>A
XR_949903.1:n.1337+894C>A
XM_005273975.3:c.-77C>A	XP_005274032.1:n.-77C>A
XM_005273976.2:c.*130C>A	XP_005274033.1:n.*130C>A
XM_017017669.2:c.224+894C>A	XP_016873158.1:n.224+894C>A
XM_017017670.2:c.224+894C>A	XP_016873159.1:n.224+894C>A
XM_017017671.2:c.1235+894C>A	XP_016873160.1:n.1235+894C>A
XR_949903.3:n.1333+894C>A
NM_002180.3:c.1235+894C>A MANE Select	NP_002171.2:n.1235+894C>A