Canonical Allele Identifier: CA2614750314

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934124-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934128del , CM000673.2:g.68934128del	GRCh38
NC_000011.9:g.68701596del , CM000673.1:g.68701596del	GRCh37
NC_000011.8:g.68458172del	NCBI36
NG_007976.1:g.35278del , LRG_250:g.35278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+215del MANE Select	ENSP00000255078.4:n.1537+215del
ENST00000674955.1:c.*254+215del	ENSP00000502463.1:n.*254+215del
ENST00000675118.1:c.1025+215del
ENST00000675205.1:n.184-336del
ENST00000675615.1:c.1537+215del	ENSP00000502413.1:n.1537+215del
ENST00000675648.1:n.912+215del
ENST00000675997.1:n.113-336del
ENST00000676173.1:n.2282+215del
ENST00000676228.1:c.*860+215del	ENSP00000502375.1:n.*860+215del
ENST00000255078.7:c.1537+215del	ENSP00000255078.3:n.1537+215del
ENST00000539064.5:n.1296+215del
ENST00000541229.5:n.232+215del
ENST00000543739.5:n.654+215del
NM_002180.2:c.1537+215del , LRG_250t1:c.1537+215del	NP_002171.2:n.1537+215del
XM_005273974.2:c.526+215del	XP_005274031.1:n.526+215del
XM_005273975.2:c.409+215del	XP_005274032.1:n.409+215del
XM_011544994.1:c.304+215del	XP_011543296.1:n.304+215del
XR_949903.1:n.1639+215del
XM_005273975.3:c.409+215del	XP_005274032.1:n.409+215del
XM_017017669.2:c.526+215del	XP_016873158.1:n.526+215del
XM_017017670.2:c.526+215del	XP_016873159.1:n.526+215del
XM_017017671.2:c.1537+215del	XP_016873160.1:n.1537+215del
XR_949903.3:n.1635+215del
NM_002180.3:c.1537+215del MANE Select	NP_002171.2:n.1537+215del