Canonical Allele Identifier: CA2614746254

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908190-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908192dup , CM000673.2:g.68908192dup	GRCh38
NC_000011.9:g.68675660dup , CM000673.1:g.68675660dup	GRCh37
NC_000011.8:g.68432236dup	NCBI36
NG_007976.1:g.9342dup , LRG_250:g.9342dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.304dup MANE Select	ENSP00000255078.4:p.Ala102GlyfsTer18
ENST00000539224.2:c.267dup
ENST00000674583.1:c.267dup
ENST00000674597.1:c.115dup
ENST00000674955.1:c.304dup	ENSP00000502463.1:p.Ala102GlyfsTer18
ENST00000675142.1:n.267dup
ENST00000675469.1:c.180dup
ENST00000675615.1:c.304dup	ENSP00000502413.1:p.Ala102GlyfsTer18
ENST00000675674.1:n.267dup
ENST00000675873.1:c.267dup
ENST00000676173.1:n.348dup
ENST00000676228.1:c.304dup	ENSP00000502375.1:p.Ala102GlyfsTer18
ENST00000255078.7:c.304dup	ENSP00000255078.3:p.Ala102GlyfsTer18
ENST00000539224.1:c.304dup	ENSP00000440465.1:p.Ala102GlyfsTer18
ENST00000544541.1:c.*44dup	ENSP00000443343.1:n.*44dup
NM_002180.2:c.304dup , LRG_250t1:c.304dup	NP_002171.2:p.Ala102GlyfsTer18
XM_005273974.2:c.-708dup	XP_005274031.1:n.-708dup
XM_005273976.1:c.304dup	XP_005274033.1:p.Ala102GlyfsTer18
XR_247198.1:n.406dup
XR_949903.1:n.406dup
XM_005273976.2:c.304dup	XP_005274033.1:p.Ala102GlyfsTer18
XM_017017669.2:c.-610dup	XP_016873158.1:n.-610dup
XM_017017671.2:c.304dup	XP_016873160.1:p.Ala102GlyfsTer18
XR_949903.3:n.402dup
NM_002180.3:c.304dup MANE Select	NP_002171.2:p.Ala102GlyfsTer18