Canonical Allele Identifier: CA381649754

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701289A>C (hg19) ; chr11:g.68933821A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933821A>C , CM000673.2:g.68933821A>C	GRCh38
NC_000011.9:g.68701289A>C , CM000673.1:g.68701289A>C	GRCh37
NC_000011.8:g.68457865A>C	NCBI36
NG_007976.1:g.34971A>C , LRG_250:g.34971A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1445A>C MANE Select	ENSP00000255078.4:p.Glu482Ala
ENST00000674955.1:c.*162A>C	ENSP00000502463.1:n.*162A>C
ENST00000675118.1:c.933A>C
ENST00000675205.1:n.183+340A>C
ENST00000675615.1:c.1445A>C	ENSP00000502413.1:p.Glu482Ala
ENST00000675648.1:n.820A>C
ENST00000675997.1:n.113-643A>C
ENST00000676173.1:n.2190A>C
ENST00000676228.1:c.*768A>C	ENSP00000502375.1:n.*768A>C
ENST00000255078.7:c.1445A>C	ENSP00000255078.3:p.Glu482Ala
ENST00000537458.5:n.562A>C
ENST00000539064.5:n.1204A>C
ENST00000541229.5:n.140A>C
ENST00000543739.5:n.562A>C
NM_002180.2:c.1445A>C , LRG_250t1:c.1445A>C	NP_002171.2:p.Glu482Ala
XM_005273974.2:c.434A>C	XP_005274031.1:p.Glu145Ala
XM_005273975.2:c.317A>C	XP_005274032.1:p.Glu106Ala
XM_011544994.1:c.212A>C	XP_011543296.1:p.Glu71Ala
XR_949903.1:n.1547A>C
XM_005273975.3:c.317A>C	XP_005274032.1:p.Glu106Ala
XM_017017669.2:c.434A>C	XP_016873158.1:p.Glu145Ala
XM_017017670.2:c.434A>C	XP_016873159.1:p.Glu145Ala
XM_017017671.2:c.1445A>C	XP_016873160.1:p.Glu482Ala
XR_949903.3:n.1543A>C
NM_002180.3:c.1445A>C MANE Select	NP_002171.2:p.Glu482Ala