Canonical Allele Identifier: CA2614750153

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934082-C-CAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934083_68934084insAGA , CM000673.2:g.68934083_68934084insAGA	GRCh38
NC_000011.9:g.68701551_68701552insAGA , CM000673.1:g.68701551_68701552insAGA	GRCh37
NC_000011.8:g.68458127_68458128insAGA	NCBI36
NG_007976.1:g.35233_35234insAGA , LRG_250:g.35233_35234insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+170_1537+171insAGA MANE Select	ENSP00000255078.4:n.1537+170_1537+171insAGA
ENST00000674955.1:c.*254+170_*254+171insAGA	ENSP00000502463.1:n.*254+170_*254+171insAGA
ENST00000675118.1:c.1025+170_1025+171insAGA
ENST00000675205.1:n.184-381_184-380insAGA
ENST00000675615.1:c.1537+170_1537+171insAGA	ENSP00000502413.1:n.1537+170_1537+171insAGA
ENST00000675648.1:n.912+170_912+171insAGA
ENST00000675997.1:n.113-381_113-380insAGA
ENST00000676173.1:n.2282+170_2282+171insAGA
ENST00000676228.1:c.*860+170_*860+171insAGA	ENSP00000502375.1:n.*860+170_*860+171insAGA
ENST00000255078.7:c.1537+170_1537+171insAGA	ENSP00000255078.3:n.1537+170_1537+171insAGA
ENST00000539064.5:n.1296+170_1296+171insAGA
ENST00000541229.5:n.232+170_232+171insAGA
ENST00000543739.5:n.654+170_654+171insAGA
NM_002180.2:c.1537+170_1537+171insAGA , LRG_250t1:c.1537+170_1537+171insAGA	NP_002171.2:n.1537+170_1537+171insAGA
XM_005273974.2:c.526+170_526+171insAGA	XP_005274031.1:n.526+170_526+171insAGA
XM_005273975.2:c.409+170_409+171insAGA	XP_005274032.1:n.409+170_409+171insAGA
XM_011544994.1:c.304+170_304+171insAGA	XP_011543296.1:n.304+170_304+171insAGA
XR_949903.1:n.1639+170_1639+171insAGA
XM_005273975.3:c.409+170_409+171insAGA	XP_005274032.1:n.409+170_409+171insAGA
XM_017017669.2:c.526+170_526+171insAGA	XP_016873158.1:n.526+170_526+171insAGA
XM_017017670.2:c.526+170_526+171insAGA	XP_016873159.1:n.526+170_526+171insAGA
XM_017017671.2:c.1537+170_1537+171insAGA	XP_016873160.1:n.1537+170_1537+171insAGA
XR_949903.3:n.1635+170_1635+171insAGA
NM_002180.3:c.1537+170_1537+171insAGA MANE Select	NP_002171.2:n.1537+170_1537+171insAGA