Canonical Allele Identifier: CA381651515

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703727G>T (hg19) ; chr11:g.68936259G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936259G>T , CM000673.2:g.68936259G>T	GRCh38
NC_000011.9:g.68703727G>T , CM000673.1:g.68703727G>T	GRCh37
NC_000011.8:g.68460303G>T	NCBI36
NG_007976.1:g.37409G>T , LRG_250:g.37409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1779G>T MANE Select	ENSP00000255078.4:p.Glu593Asp
ENST00000674675.1:c.23G>T
ENST00000674878.1:c.23G>T
ENST00000674955.1:c.*496G>T	ENSP00000502463.1:n.*496G>T
ENST00000675118.1:c.1267G>T
ENST00000675389.1:n.54G>T
ENST00000675615.1:c.1779G>T	ENSP00000502413.1:p.Glu593Asp
ENST00000675648.1:n.1154G>T
ENST00000675916.1:c.23G>T
ENST00000676173.1:n.2524G>T
ENST00000676182.1:c.210G>T
ENST00000676228.1:c.*1102G>T	ENSP00000502375.1:n.*1102G>T
ENST00000255078.7:c.1779G>T	ENSP00000255078.3:p.Glu593Asp
ENST00000539064.5:n.1538G>T
ENST00000541229.5:n.474G>T
ENST00000543739.5:n.772G>T
ENST00000545475.1:n.375G>T
NM_002180.2:c.1779G>T , LRG_250t1:c.1779G>T	NP_002171.2:p.Glu593Asp
XM_005273974.2:c.768G>T	XP_005274031.1:p.Glu256Asp
XM_005273975.2:c.651G>T	XP_005274032.1:p.Glu217Asp
XM_011544994.1:c.546G>T	XP_011543296.1:p.Glu182Asp
XR_949903.1:n.1881G>T
XM_005273975.3:c.651G>T	XP_005274032.1:p.Glu217Asp
XM_017017669.2:c.768G>T	XP_016873158.1:p.Glu256Asp
XM_017017670.2:c.768G>T	XP_016873159.1:p.Glu256Asp
XR_949903.3:n.1877G>T
NM_002180.3:c.1779G>T MANE Select	NP_002171.2:p.Glu593Asp