Canonical Allele Identifier: CA2740093132

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2946657
• ClinVar RCV Id: RCV003808895

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936233G>A , CM000673.2:g.68936233G>A	GRCh38
NC_000011.9:g.68703701G>A , CM000673.1:g.68703701G>A	GRCh37
NC_000011.8:g.68460277G>A	NCBI36
NG_007976.1:g.37383G>A , LRG_250:g.37383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1757-4G>A MANE Select	ENSP00000255078.4:n.1757-4G>A
ENST00000674955.1:c.*474-4G>A	ENSP00000502463.1:n.*474-4G>A
ENST00000675118.1:c.1245-4G>A
ENST00000675389.1:n.32-4G>A
ENST00000675615.1:c.1757-4G>A	ENSP00000502413.1:n.1757-4G>A
ENST00000675648.1:n.1132-4G>A
ENST00000676173.1:n.2502-4G>A
ENST00000676182.1:c.188-4G>A
ENST00000676228.1:c.*1080-4G>A	ENSP00000502375.1:n.*1080-4G>A
ENST00000255078.7:c.1757-4G>A	ENSP00000255078.3:n.1757-4G>A
ENST00000539064.5:n.1516-4G>A
ENST00000541229.5:n.452-4G>A
ENST00000543739.5:n.750-4G>A
ENST00000545475.1:n.353-4G>A
NM_002180.2:c.1757-4G>A , LRG_250t1:c.1757-4G>A	NP_002171.2:n.1757-4G>A
XM_005273974.2:c.746-4G>A	XP_005274031.1:n.746-4G>A
XM_005273975.2:c.629-4G>A	XP_005274032.1:n.629-4G>A
XM_011544994.1:c.524-4G>A	XP_011543296.1:n.524-4G>A
XR_949903.1:n.1859-4G>A
XM_005273975.3:c.629-4G>A	XP_005274032.1:n.629-4G>A
XM_017017669.2:c.746-4G>A	XP_016873158.1:n.746-4G>A
XM_017017670.2:c.746-4G>A	XP_016873159.1:n.746-4G>A
XR_949903.3:n.1855-4G>A
NM_002180.3:c.1757-4G>A MANE Select	NP_002171.2:n.1757-4G>A