Canonical Allele Identifier: CA381653806

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936988-G-T
• MyVariant Identifiers: chr11:g.68704456G>T (hg19) ; chr11:g.68936988G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936988G>T , CM000673.2:g.68936988G>T	GRCh38
NC_000011.9:g.68704456G>T , CM000673.1:g.68704456G>T	GRCh37
NC_000011.8:g.68461032G>T	NCBI36
NG_007976.1:g.38138G>T , LRG_250:g.38138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2508G>T MANE Select	ENSP00000255078.4:p.Glu836Asp
ENST00000674675.1:c.653G>T
ENST00000674878.1:c.613G>T
ENST00000675118.1:c.1996G>T
ENST00000675389.1:n.783G>T
ENST00000675615.1:c.2508G>T	ENSP00000502413.1:p.Glu836Asp
ENST00000675648.1:n.1883G>T
ENST00000675916.1:c.752G>T
ENST00000676173.1:n.3253G>T
ENST00000676182.1:c.939G>T
ENST00000676228.1:c.*1831G>T	ENSP00000502375.1:n.*1831G>T
ENST00000255078.7:c.2508G>T	ENSP00000255078.3:p.Glu836Asp
ENST00000539064.5:n.2267G>T
ENST00000543739.5:n.1501G>T
NM_002180.2:c.2508G>T , LRG_250t1:c.2508G>T	NP_002171.2:p.Glu836Asp
XM_005273974.2:c.1497G>T	XP_005274031.1:p.Glu499Asp
XM_005273975.2:c.1380G>T	XP_005274032.1:p.Glu460Asp
XM_011544994.1:c.1275G>T	XP_011543296.1:p.Glu425Asp
XR_949903.1:n.2610G>T
XM_005273975.3:c.1380G>T	XP_005274032.1:p.Glu460Asp
XM_017017669.2:c.1497G>T	XP_016873158.1:p.Glu499Asp
XM_017017670.2:c.1497G>T	XP_016873159.1:p.Glu499Asp
XR_949903.3:n.2606G>T
NM_002180.3:c.2508G>T MANE Select	NP_002171.2:p.Glu836Asp