Canonical Allele Identifier: CA2614749981

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933993-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933994_68933995insTT , CM000673.2:g.68933994_68933995insTT	GRCh38
NC_000011.9:g.68701462_68701463insTT , CM000673.1:g.68701462_68701463insTT	GRCh37
NC_000011.8:g.68458038_68458039insTT	NCBI36
NG_007976.1:g.35144_35145insTT , LRG_250:g.35144_35145insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+81_1537+82insTT MANE Select	ENSP00000255078.4:n.1537+81_1537+82insTT
ENST00000674955.1:c.*254+81_*254+82insTT	ENSP00000502463.1:n.*254+81_*254+82insTT
ENST00000675118.1:c.1025+81_1025+82insTT
ENST00000675205.1:n.184-470_184-469insTT
ENST00000675615.1:c.1537+81_1537+82insTT	ENSP00000502413.1:n.1537+81_1537+82insTT
ENST00000675648.1:n.912+81_912+82insTT
ENST00000675997.1:n.113-470_113-469insTT
ENST00000676173.1:n.2282+81_2282+82insTT
ENST00000676228.1:c.*860+81_*860+82insTT	ENSP00000502375.1:n.*860+81_*860+82insTT
ENST00000255078.7:c.1537+81_1537+82insTT	ENSP00000255078.3:n.1537+81_1537+82insTT
ENST00000537458.5:n.735_736insTT
ENST00000539064.5:n.1296+81_1296+82insTT
ENST00000541229.5:n.232+81_232+82insTT
ENST00000543739.5:n.654+81_654+82insTT
NM_002180.2:c.1537+81_1537+82insTT , LRG_250t1:c.1537+81_1537+82insTT	NP_002171.2:n.1537+81_1537+82insTT
XM_005273974.2:c.526+81_526+82insTT	XP_005274031.1:n.526+81_526+82insTT
XM_005273975.2:c.409+81_409+82insTT	XP_005274032.1:n.409+81_409+82insTT
XM_011544994.1:c.304+81_304+82insTT	XP_011543296.1:n.304+81_304+82insTT
XR_949903.1:n.1639+81_1639+82insTT
XM_005273975.3:c.409+81_409+82insTT	XP_005274032.1:n.409+81_409+82insTT
XM_017017669.2:c.526+81_526+82insTT	XP_016873158.1:n.526+81_526+82insTT
XM_017017670.2:c.526+81_526+82insTT	XP_016873159.1:n.526+81_526+82insTT
XM_017017671.2:c.1537+81_1537+82insTT	XP_016873160.1:n.1537+81_1537+82insTT
XR_949903.3:n.1635+81_1635+82insTT
NM_002180.3:c.1537+81_1537+82insTT MANE Select	NP_002171.2:n.1537+81_1537+82insTT