Canonical Allele Identifier: CA381644902

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685286A>T (hg19) ; chr11:g.68917818A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917818A>T , CM000673.2:g.68917818A>T	GRCh38
NC_000011.9:g.68685286A>T , CM000673.1:g.68685286A>T	GRCh37
NC_000011.8:g.68441862A>T	NCBI36
NG_007976.1:g.18968A>T , LRG_250:g.18968A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.995A>T MANE Select	ENSP00000255078.4:p.Glu332Val
ENST00000674745.1:c.83A>T	ENSP00000502738.1:p.Glu28Val
ENST00000674775.1:n.83A>T
ENST00000674955.1:c.995A>T	ENSP00000502463.1:p.Glu332Val
ENST00000675118.1:c.483A>T
ENST00000675119.1:c.422A>T	ENSP00000501861.1:n.422A>T
ENST00000675305.1:c.315A>T	ENSP00000502365.1:n.315A>T
ENST00000675464.1:c.278A>T	ENSP00000502650.1:p.Glu93Val
ENST00000675493.1:n.83A>T
ENST00000675615.1:c.995A>T	ENSP00000502413.1:p.Glu332Val
ENST00000675648.1:n.370A>T
ENST00000675683.1:c.382A>T
ENST00000675684.1:c.83A>T	ENSP00000502192.1:p.Glu28Val
ENST00000676173.1:n.1039A>T
ENST00000676228.1:c.*318A>T	ENSP00000502375.1:n.*318A>T
ENST00000255078.7:c.995A>T	ENSP00000255078.3:p.Glu332Val
NM_002180.2:c.995A>T , LRG_250t1:c.995A>T	NP_002171.2:p.Glu332Val
XM_005273974.2:c.-17A>T	XP_005274031.1:n.-17A>T
XM_005273976.1:c.995A>T	XP_005274033.1:p.Glu332Val
XR_247198.1:n.1097A>T
XR_949903.1:n.1097A>T
XM_005273976.2:c.995A>T	XP_005274033.1:p.Glu332Val
XM_017017669.2:c.-17A>T	XP_016873158.1:n.-17A>T
XM_017017670.2:c.-17A>T	XP_016873159.1:n.-17A>T
XM_017017671.2:c.995A>T	XP_016873160.1:p.Glu332Val
XR_949903.3:n.1093A>T
NM_002180.3:c.995A>T MANE Select	NP_002171.2:p.Glu332Val