Canonical Allele Identifier: CA2614750409

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934181-G-GCCTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934181_68934182insCCTGGC , CM000673.2:g.68934181_68934182insCCTGGC	GRCh38
NC_000011.9:g.68701649_68701650insCCTGGC , CM000673.1:g.68701649_68701650insCCTGGC	GRCh37
NC_000011.8:g.68458225_68458226insCCTGGC	NCBI36
NG_007976.1:g.35331_35332insCCTGGC , LRG_250:g.35331_35332insCCTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+268_1537+269insCCTGGC MANE Select	ENSP00000255078.4:n.1537+268_1537+269insCCTGGC
ENST00000674955.1:c.*254+268_*254+269insCCTGGC	ENSP00000502463.1:n.*254+268_*254+269insCCTGGC
ENST00000675118.1:c.1025+268_1025+269insCCTGGC
ENST00000675205.1:n.184-283_184-282insCCTGGC
ENST00000675615.1:c.1537+268_1537+269insCCTGGC	ENSP00000502413.1:n.1537+268_1537+269insCCTGGC
ENST00000675648.1:n.912+268_912+269insCCTGGC
ENST00000675997.1:n.113-283_113-282insCCTGGC
ENST00000676173.1:n.2282+268_2282+269insCCTGGC
ENST00000676228.1:c.*860+268_*860+269insCCTGGC	ENSP00000502375.1:n.*860+268_*860+269insCCTGGC
ENST00000255078.7:c.1537+268_1537+269insCCTGGC	ENSP00000255078.3:n.1537+268_1537+269insCCTGGC
ENST00000539064.5:n.1296+268_1296+269insCCTGGC
ENST00000541229.5:n.232+268_232+269insCCTGGC
ENST00000543739.5:n.654+268_654+269insCCTGGC
NM_002180.2:c.1537+268_1537+269insCCTGGC , LRG_250t1:c.1537+268_1537+269insCCTGGC	NP_002171.2:n.1537+268_1537+269insCCTGGC
XM_005273974.2:c.526+268_526+269insCCTGGC	XP_005274031.1:n.526+268_526+269insCCTGGC
XM_005273975.2:c.409+268_409+269insCCTGGC	XP_005274032.1:n.409+268_409+269insCCTGGC
XM_011544994.1:c.304+268_304+269insCCTGGC	XP_011543296.1:n.304+268_304+269insCCTGGC
XR_949903.1:n.1639+268_1639+269insCCTGGC
XM_005273975.3:c.409+268_409+269insCCTGGC	XP_005274032.1:n.409+268_409+269insCCTGGC
XM_017017669.2:c.526+268_526+269insCCTGGC	XP_016873158.1:n.526+268_526+269insCCTGGC
XM_017017670.2:c.526+268_526+269insCCTGGC	XP_016873159.1:n.526+268_526+269insCCTGGC
XM_017017671.2:c.1537+268_1537+269insCCTGGC	XP_016873160.1:n.1537+268_1537+269insCCTGGC
XR_949903.3:n.1635+268_1635+269insCCTGGC
NM_002180.3:c.1537+268_1537+269insCCTGGC MANE Select	NP_002171.2:n.1537+268_1537+269insCCTGGC