Canonical Allele Identifier: CA475195047

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68685281G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917813G>A , CM000673.2:g.68917813G>A	GRCh38
NC_000011.9:g.68685281G>A , CM000673.1:g.68685281G>A	GRCh37
NC_000011.8:g.68441857G>A	NCBI36
NG_007976.1:g.18963G>A , LRG_250:g.18963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.990G>A MANE Select	ENSP00000255078.4:p.Leu330=
ENST00000674745.1:c.78G>A	ENSP00000502738.1:p.Leu26=
ENST00000674775.1:n.78G>A
ENST00000674955.1:c.990G>A	ENSP00000502463.1:p.Leu330=
ENST00000675118.1:c.478G>A
ENST00000675119.1:c.417G>A	ENSP00000501861.1:n.417G>A
ENST00000675305.1:c.310G>A	ENSP00000502365.1:n.310G>A
ENST00000675464.1:c.273G>A	ENSP00000502650.1:p.Leu91=
ENST00000675493.1:n.78G>A
ENST00000675615.1:c.990G>A	ENSP00000502413.1:p.Leu330=
ENST00000675648.1:n.365G>A
ENST00000675683.1:c.377G>A
ENST00000675684.1:c.78G>A	ENSP00000502192.1:p.Leu26=
ENST00000676173.1:n.1034G>A
ENST00000676228.1:c.*313G>A	ENSP00000502375.1:n.*313G>A
ENST00000255078.7:c.990G>A	ENSP00000255078.3:p.Leu330=
NM_002180.2:c.990G>A , LRG_250t1:c.990G>A	NP_002171.2:p.Leu330=
XM_005273974.2:c.-22G>A	XP_005274031.1:n.-22G>A
XM_005273976.1:c.990G>A	XP_005274033.1:p.Leu330=
XR_247198.1:n.1092G>A
XR_949903.1:n.1092G>A
XM_005273976.2:c.990G>A	XP_005274033.1:p.Leu330=
XM_017017669.2:c.-22G>A	XP_016873158.1:n.-22G>A
XM_017017670.2:c.-22G>A	XP_016873159.1:n.-22G>A
XM_017017671.2:c.990G>A	XP_016873160.1:p.Leu330=
XR_949903.3:n.1088G>A
NM_002180.3:c.990G>A MANE Select	NP_002171.2:p.Leu330=