Canonical Allele Identifier: CA2614748043

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936185-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936189_68936190del , CM000673.2:g.68936189_68936190del	GRCh38
NC_000011.9:g.68703657_68703658del , CM000673.1:g.68703657_68703658del	GRCh37
NC_000011.8:g.68460233_68460234del	NCBI36
NG_007976.1:g.37339_37340del , LRG_250:g.37339_37340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1757-48_1757-47del MANE Select	ENSP00000255078.4:n.1757-48_1757-47del
ENST00000674955.1:c.*474-48_*474-47del	ENSP00000502463.1:n.*474-48_*474-47del
ENST00000675118.1:c.1245-48_1245-47del
ENST00000675389.1:n.32-48_32-47del
ENST00000675615.1:c.1757-48_1757-47del	ENSP00000502413.1:n.1757-48_1757-47del
ENST00000675648.1:n.1132-48_1132-47del
ENST00000676173.1:n.2502-48_2502-47del
ENST00000676182.1:c.188-48_188-47del
ENST00000676228.1:c.*1080-48_*1080-47del	ENSP00000502375.1:n.*1080-48_*1080-47del
ENST00000255078.7:c.1757-48_1757-47del	ENSP00000255078.3:n.1757-48_1757-47del
ENST00000539064.5:n.1516-48_1516-47del
ENST00000541229.5:n.452-48_452-47del
ENST00000543739.5:n.750-48_750-47del
ENST00000545475.1:n.353-48_353-47del
NM_002180.2:c.1757-48_1757-47del , LRG_250t1:c.1757-48_1757-47del	NP_002171.2:n.1757-48_1757-47del
XM_005273974.2:c.746-48_746-47del	XP_005274031.1:n.746-48_746-47del
XM_005273975.2:c.629-48_629-47del	XP_005274032.1:n.629-48_629-47del
XM_011544994.1:c.524-48_524-47del	XP_011543296.1:n.524-48_524-47del
XR_949903.1:n.1859-48_1859-47del
XM_005273975.3:c.629-48_629-47del	XP_005274032.1:n.629-48_629-47del
XM_017017669.2:c.746-48_746-47del	XP_016873158.1:n.746-48_746-47del
XM_017017670.2:c.746-48_746-47del	XP_016873159.1:n.746-48_746-47del
XR_949903.3:n.1855-48_1855-47del
NM_002180.3:c.1757-48_1757-47del MANE Select	NP_002171.2:n.1757-48_1757-47del