Canonical Allele Identifier: CA2614750067

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68934044-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68934047_68934048del , CM000673.2:g.68934047_68934048del	GRCh38
NC_000011.9:g.68701515_68701516del , CM000673.1:g.68701515_68701516del	GRCh37
NC_000011.8:g.68458091_68458092del	NCBI36
NG_007976.1:g.35197_35198del , LRG_250:g.35197_35198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1537+134_1537+135del MANE Select	ENSP00000255078.4:n.1537+134_1537+135del
ENST00000674955.1:c.*254+134_*254+135del	ENSP00000502463.1:n.*254+134_*254+135del
ENST00000675118.1:c.1025+134_1025+135del
ENST00000675205.1:n.184-417_184-416del
ENST00000675615.1:c.1537+134_1537+135del	ENSP00000502413.1:n.1537+134_1537+135del
ENST00000675648.1:n.912+134_912+135del
ENST00000675997.1:n.113-417_113-416del
ENST00000676173.1:n.2282+134_2282+135del
ENST00000676228.1:c.*860+134_*860+135del	ENSP00000502375.1:n.*860+134_*860+135del
ENST00000255078.7:c.1537+134_1537+135del	ENSP00000255078.3:n.1537+134_1537+135del
ENST00000537458.5:n.788_789del
ENST00000539064.5:n.1296+134_1296+135del
ENST00000541229.5:n.232+134_232+135del
ENST00000543739.5:n.654+134_654+135del
NM_002180.2:c.1537+134_1537+135del , LRG_250t1:c.1537+134_1537+135del	NP_002171.2:n.1537+134_1537+135del
XM_005273974.2:c.526+134_526+135del	XP_005274031.1:n.526+134_526+135del
XM_005273975.2:c.409+134_409+135del	XP_005274032.1:n.409+134_409+135del
XM_011544994.1:c.304+134_304+135del	XP_011543296.1:n.304+134_304+135del
XR_949903.1:n.1639+134_1639+135del
XM_005273975.3:c.409+134_409+135del	XP_005274032.1:n.409+134_409+135del
XM_017017669.2:c.526+134_526+135del	XP_016873158.1:n.526+134_526+135del
XM_017017670.2:c.526+134_526+135del	XP_016873159.1:n.526+134_526+135del
XM_017017671.2:c.1537+134_1537+135del	XP_016873160.1:n.1537+134_1537+135del
XR_949903.3:n.1635+134_1635+135del
NM_002180.3:c.1537+134_1537+135del MANE Select	NP_002171.2:n.1537+134_1537+135del