Canonical Allele Identifier: CA2614746249

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908172-C-CTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908174_68908176dup , CM000673.2:g.68908174_68908176dup	GRCh38
NC_000011.9:g.68675642_68675644dup , CM000673.1:g.68675642_68675644dup	GRCh37
NC_000011.8:g.68432218_68432220dup	NCBI36
NG_007976.1:g.9324_9326dup , LRG_250:g.9324_9326dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.286_288dup MANE Select	ENSP00000255078.4:p.Asn96_Glu97insAsn
ENST00000539224.2:c.249_251dup
ENST00000674583.1:c.249_251dup
ENST00000674597.1:c.97_99dup
ENST00000674955.1:c.286_288dup	ENSP00000502463.1:p.Asn96_Glu97insAsn
ENST00000675142.1:n.249_251dup
ENST00000675469.1:c.162_164dup
ENST00000675615.1:c.286_288dup	ENSP00000502413.1:p.Asn96_Glu97insAsn
ENST00000675674.1:n.249_251dup
ENST00000675873.1:c.249_251dup
ENST00000676173.1:n.330_332dup
ENST00000676228.1:c.286_288dup	ENSP00000502375.1:p.Asn96_Glu97insAsn
ENST00000255078.7:c.286_288dup	ENSP00000255078.3:p.Asn96_Glu97insAsn
ENST00000539224.1:c.286_288dup	ENSP00000440465.1:p.Asn96_Glu97insAsn
ENST00000544541.1:c.*26_*28dup	ENSP00000443343.1:n.*26_*28dup
ENST00000545146.1:c.*156_*158dup	ENSP00000456366.1:n.*156_*158dup
NM_002180.2:c.286_288dup , LRG_250t1:c.286_288dup	NP_002171.2:p.Asn96_Glu97insAsn
XM_005273974.2:c.-726_-724dup	XP_005274031.1:n.-726_-724dup
XM_005273976.1:c.286_288dup	XP_005274033.1:p.Asn96_Glu97insAsn
XR_247198.1:n.388_390dup
XR_949903.1:n.388_390dup
XM_005273976.2:c.286_288dup	XP_005274033.1:p.Asn96_Glu97insAsn
XM_017017669.2:c.-628_-626dup	XP_016873158.1:n.-628_-626dup
XM_017017671.2:c.286_288dup	XP_016873160.1:p.Asn96_Glu97insAsn
XR_949903.3:n.384_386dup
NM_002180.3:c.286_288dup MANE Select	NP_002171.2:p.Asn96_Glu97insAsn