Canonical Allele Identifier: CA381653667

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704395A>T (hg19) ; chr11:g.68936927A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936927A>T , CM000673.2:g.68936927A>T	GRCh38
NC_000011.9:g.68704395A>T , CM000673.1:g.68704395A>T	GRCh37
NC_000011.8:g.68460971A>T	NCBI36
NG_007976.1:g.38077A>T , LRG_250:g.38077A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2447A>T MANE Select	ENSP00000255078.4:p.Glu816Val
ENST00000674675.1:c.592A>T
ENST00000674878.1:c.552A>T
ENST00000675118.1:c.1935A>T
ENST00000675389.1:n.722A>T
ENST00000675615.1:c.2447A>T	ENSP00000502413.1:p.Glu816Val
ENST00000675648.1:n.1822A>T
ENST00000675916.1:c.691A>T
ENST00000676173.1:n.3192A>T
ENST00000676182.1:c.878A>T
ENST00000676228.1:c.*1770A>T	ENSP00000502375.1:n.*1770A>T
ENST00000255078.7:c.2447A>T	ENSP00000255078.3:p.Glu816Val
ENST00000539064.5:n.2206A>T
ENST00000543739.5:n.1440A>T
NM_002180.2:c.2447A>T , LRG_250t1:c.2447A>T	NP_002171.2:p.Glu816Val
XM_005273974.2:c.1436A>T	XP_005274031.1:p.Glu479Val
XM_005273975.2:c.1319A>T	XP_005274032.1:p.Glu440Val
XM_011544994.1:c.1214A>T	XP_011543296.1:p.Glu405Val
XR_949903.1:n.2549A>T
XM_005273975.3:c.1319A>T	XP_005274032.1:p.Glu440Val
XM_017017669.2:c.1436A>T	XP_016873158.1:p.Glu479Val
XM_017017670.2:c.1436A>T	XP_016873159.1:p.Glu479Val
XR_949903.3:n.2545A>T
NM_002180.3:c.2447A>T MANE Select	NP_002171.2:p.Glu816Val