Canonical Allele Identifier: CA2614750034

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934025-ATGGCCGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934026_68934033del , CM000673.2:g.68934026_68934033del	GRCh38
NC_000011.9:g.68701494_68701501del , CM000673.1:g.68701494_68701501del	GRCh37
NC_000011.8:g.68458070_68458077del	NCBI36
NG_007976.1:g.35176_35183del , LRG_250:g.35176_35183del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+113_1537+120del MANE Select	ENSP00000255078.4:n.1537+113_1537+120del
ENST00000674955.1:c.*254+113_*254+120del	ENSP00000502463.1:n.*254+113_*254+120del
ENST00000675118.1:c.1025+113_1025+120del
ENST00000675205.1:n.184-438_184-431del
ENST00000675615.1:c.1537+113_1537+120del	ENSP00000502413.1:n.1537+113_1537+120del
ENST00000675648.1:n.912+113_912+120del
ENST00000675997.1:n.113-438_113-431del
ENST00000676173.1:n.2282+113_2282+120del
ENST00000676228.1:c.*860+113_*860+120del	ENSP00000502375.1:n.*860+113_*860+120del
ENST00000255078.7:c.1537+113_1537+120del	ENSP00000255078.3:n.1537+113_1537+120del
ENST00000537458.5:n.767_774del
ENST00000539064.5:n.1296+113_1296+120del
ENST00000541229.5:n.232+113_232+120del
ENST00000543739.5:n.654+113_654+120del
NM_002180.2:c.1537+113_1537+120del , LRG_250t1:c.1537+113_1537+120del	NP_002171.2:n.1537+113_1537+120del
XM_005273974.2:c.526+113_526+120del	XP_005274031.1:n.526+113_526+120del
XM_005273975.2:c.409+113_409+120del	XP_005274032.1:n.409+113_409+120del
XM_011544994.1:c.304+113_304+120del	XP_011543296.1:n.304+113_304+120del
XR_949903.1:n.1639+113_1639+120del
XM_005273975.3:c.409+113_409+120del	XP_005274032.1:n.409+113_409+120del
XM_017017669.2:c.526+113_526+120del	XP_016873158.1:n.526+113_526+120del
XM_017017670.2:c.526+113_526+120del	XP_016873159.1:n.526+113_526+120del
XM_017017671.2:c.1537+113_1537+120del	XP_016873160.1:n.1537+113_1537+120del
XR_949903.3:n.1635+113_1635+120del
NM_002180.3:c.1537+113_1537+120del MANE Select	NP_002171.2:n.1537+113_1537+120del