Canonical Allele Identifier: CA381653226

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704240G>C (hg19) ; chr11:g.68936772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936772G>C , CM000673.2:g.68936772G>C	GRCh38
NC_000011.9:g.68704240G>C , CM000673.1:g.68704240G>C	GRCh37
NC_000011.8:g.68460816G>C	NCBI36
NG_007976.1:g.37922G>C , LRG_250:g.37922G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2292G>C MANE Select	ENSP00000255078.4:p.Glu764Asp
ENST00000674675.1:c.536G>C
ENST00000674878.1:c.536G>C
ENST00000674955.1:c.*1009G>C	ENSP00000502463.1:n.*1009G>C
ENST00000675118.1:c.1780G>C
ENST00000675389.1:n.567G>C
ENST00000675615.1:c.2292G>C	ENSP00000502413.1:p.Glu764Asp
ENST00000675648.1:n.1667G>C
ENST00000675916.1:c.536G>C
ENST00000676173.1:n.3037G>C
ENST00000676182.1:c.723G>C
ENST00000676228.1:c.*1615G>C	ENSP00000502375.1:n.*1615G>C
ENST00000255078.7:c.2292G>C	ENSP00000255078.3:p.Glu764Asp
ENST00000539064.5:n.2051G>C
ENST00000543739.5:n.1285G>C
NM_002180.2:c.2292G>C , LRG_250t1:c.2292G>C	NP_002171.2:p.Glu764Asp
XM_005273974.2:c.1281G>C	XP_005274031.1:p.Glu427Asp
XM_005273975.2:c.1164G>C	XP_005274032.1:p.Glu388Asp
XM_011544994.1:c.1059G>C	XP_011543296.1:p.Glu353Asp
XR_949903.1:n.2394G>C
XM_005273975.3:c.1164G>C	XP_005274032.1:p.Glu388Asp
XM_017017669.2:c.1281G>C	XP_016873158.1:p.Glu427Asp
XM_017017670.2:c.1281G>C	XP_016873159.1:p.Glu427Asp
XR_949903.3:n.2390G>C
NM_002180.3:c.2292G>C MANE Select	NP_002171.2:p.Glu764Asp