Canonical Allele Identifier: CA475201721

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2167221
• ClinVar RCV Id: RCV003086334
• MyVariant Identifiers: chr11:g.68701347G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933879G>T , CM000673.2:g.68933879G>T	GRCh38
NC_000011.9:g.68701347G>T , CM000673.1:g.68701347G>T	GRCh37
NC_000011.8:g.68457923G>T	NCBI36
NG_007976.1:g.35029G>T , LRG_250:g.35029G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1503G>T MANE Select	ENSP00000255078.4:p.Leu501=
ENST00000674955.1:c.*220G>T	ENSP00000502463.1:n.*220G>T
ENST00000675118.1:c.991G>T
ENST00000675205.1:n.183+398G>T
ENST00000675615.1:c.1503G>T	ENSP00000502413.1:p.Leu501=
ENST00000675648.1:n.878G>T
ENST00000675997.1:n.113-585G>T
ENST00000676173.1:n.2248G>T
ENST00000676228.1:c.*826G>T	ENSP00000502375.1:n.*826G>T
ENST00000255078.7:c.1503G>T	ENSP00000255078.3:p.Leu501=
ENST00000537458.5:n.620G>T
ENST00000539064.5:n.1262G>T
ENST00000541229.5:n.198G>T
ENST00000543739.5:n.620G>T
NM_002180.2:c.1503G>T , LRG_250t1:c.1503G>T	NP_002171.2:p.Leu501=
XM_005273974.2:c.492G>T	XP_005274031.1:p.Leu164=
XM_005273975.2:c.375G>T	XP_005274032.1:p.Leu125=
XM_011544994.1:c.270G>T	XP_011543296.1:p.Leu90=
XR_949903.1:n.1605G>T
XM_005273975.3:c.375G>T	XP_005274032.1:p.Leu125=
XM_017017669.2:c.492G>T	XP_016873158.1:p.Leu164=
XM_017017670.2:c.492G>T	XP_016873159.1:p.Leu164=
XM_017017671.2:c.1503G>T	XP_016873160.1:p.Leu501=
XR_949903.3:n.1601G>T
NM_002180.3:c.1503G>T MANE Select	NP_002171.2:p.Leu501=