Canonical Allele Identifier: CA475201054

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701308G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933840G>T , CM000673.2:g.68933840G>T	GRCh38
NC_000011.9:g.68701308G>T , CM000673.1:g.68701308G>T	GRCh37
NC_000011.8:g.68457884G>T	NCBI36
NG_007976.1:g.34990G>T , LRG_250:g.34990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1464G>T MANE Select	ENSP00000255078.4:p.Leu488=
ENST00000674955.1:c.*181G>T	ENSP00000502463.1:n.*181G>T
ENST00000675118.1:c.952G>T
ENST00000675205.1:n.183+359G>T
ENST00000675615.1:c.1464G>T	ENSP00000502413.1:p.Leu488=
ENST00000675648.1:n.839G>T
ENST00000675997.1:n.113-624G>T
ENST00000676173.1:n.2209G>T
ENST00000676228.1:c.*787G>T	ENSP00000502375.1:n.*787G>T
ENST00000255078.7:c.1464G>T	ENSP00000255078.3:p.Leu488=
ENST00000537458.5:n.581G>T
ENST00000539064.5:n.1223G>T
ENST00000541229.5:n.159G>T
ENST00000543739.5:n.581G>T
NM_002180.2:c.1464G>T , LRG_250t1:c.1464G>T	NP_002171.2:p.Leu488=
XM_005273974.2:c.453G>T	XP_005274031.1:p.Leu151=
XM_005273975.2:c.336G>T	XP_005274032.1:p.Leu112=
XM_011544994.1:c.231G>T	XP_011543296.1:p.Leu77=
XR_949903.1:n.1566G>T
XM_005273975.3:c.336G>T	XP_005274032.1:p.Leu112=
XM_017017669.2:c.453G>T	XP_016873158.1:p.Leu151=
XM_017017670.2:c.453G>T	XP_016873159.1:p.Leu151=
XM_017017671.2:c.1464G>T	XP_016873160.1:p.Leu488=
XR_949903.3:n.1562G>T
NM_002180.3:c.1464G>T MANE Select	NP_002171.2:p.Leu488=