Canonical Allele Identifier: CA939179177

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1859518641
• gnomAD v3: 11-68936172-CGTA-C
• gnomAD v4: 11-68936172-CGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936174_68936176del , CM000673.2:g.68936174_68936176del	GRCh38
NC_000011.9:g.68703642_68703644del , CM000673.1:g.68703642_68703644del	GRCh37
NC_000011.8:g.68460218_68460220del	NCBI36
NG_007976.1:g.37324_37326del , LRG_250:g.37324_37326del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1757-63_1757-61del MANE Select	ENSP00000255078.4:n.1757-63_1757-61del
ENST00000674955.1:c.*474-63_*474-61del	ENSP00000502463.1:n.*474-63_*474-61del
ENST00000675118.1:c.1245-63_1245-61del
ENST00000675389.1:n.32-63_32-61del
ENST00000675615.1:c.1757-63_1757-61del	ENSP00000502413.1:n.1757-63_1757-61del
ENST00000675648.1:n.1132-63_1132-61del
ENST00000676173.1:n.2502-63_2502-61del
ENST00000676182.1:c.188-63_188-61del
ENST00000676228.1:c.*1080-63_*1080-61del	ENSP00000502375.1:n.*1080-63_*1080-61del
ENST00000255078.7:c.1757-63_1757-61del	ENSP00000255078.3:n.1757-63_1757-61del
ENST00000539064.5:n.1516-63_1516-61del
ENST00000541229.5:n.452-63_452-61del
ENST00000543739.5:n.750-63_750-61del
ENST00000545475.1:n.353-63_353-61del
NM_002180.2:c.1757-63_1757-61del , LRG_250t1:c.1757-63_1757-61del	NP_002171.2:n.1757-63_1757-61del
XM_005273974.2:c.746-63_746-61del	XP_005274031.1:n.746-63_746-61del
XM_005273975.2:c.629-63_629-61del	XP_005274032.1:n.629-63_629-61del
XM_011544994.1:c.524-63_524-61del	XP_011543296.1:n.524-63_524-61del
XR_949903.1:n.1859-63_1859-61del
XM_005273975.3:c.629-63_629-61del	XP_005274032.1:n.629-63_629-61del
XM_017017669.2:c.746-63_746-61del	XP_016873158.1:n.746-63_746-61del
XM_017017670.2:c.746-63_746-61del	XP_016873159.1:n.746-63_746-61del
XR_949903.3:n.1855-63_1855-61del
NM_002180.3:c.1757-63_1757-61del MANE Select	NP_002171.2:n.1757-63_1757-61del