Canonical Allele Identifier: CA381651527

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703734A>T (hg19) ; chr11:g.68936266A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936266A>T , CM000673.2:g.68936266A>T	GRCh38
NC_000011.9:g.68703734A>T , CM000673.1:g.68703734A>T	GRCh37
NC_000011.8:g.68460310A>T	NCBI36
NG_007976.1:g.37416A>T , LRG_250:g.37416A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1786A>T MANE Select	ENSP00000255078.4:p.Arg596Trp
ENST00000674675.1:c.30A>T
ENST00000674878.1:c.30A>T
ENST00000674955.1:c.*503A>T	ENSP00000502463.1:n.*503A>T
ENST00000675118.1:c.1274A>T
ENST00000675389.1:n.61A>T
ENST00000675615.1:c.1786A>T	ENSP00000502413.1:p.Arg596Trp
ENST00000675648.1:n.1161A>T
ENST00000675916.1:c.30A>T
ENST00000676173.1:n.2531A>T
ENST00000676182.1:c.217A>T
ENST00000676228.1:c.*1109A>T	ENSP00000502375.1:n.*1109A>T
ENST00000255078.7:c.1786A>T	ENSP00000255078.3:p.Arg596Trp
ENST00000539064.5:n.1545A>T
ENST00000541229.5:n.481A>T
ENST00000543739.5:n.779A>T
ENST00000545475.1:n.382A>T
NM_002180.2:c.1786A>T , LRG_250t1:c.1786A>T	NP_002171.2:p.Arg596Trp
XM_005273974.2:c.775A>T	XP_005274031.1:p.Arg259Trp
XM_005273975.2:c.658A>T	XP_005274032.1:p.Arg220Trp
XM_011544994.1:c.553A>T	XP_011543296.1:p.Arg185Trp
XR_949903.1:n.1888A>T
XM_005273975.3:c.658A>T	XP_005274032.1:p.Arg220Trp
XM_017017669.2:c.775A>T	XP_016873158.1:p.Arg259Trp
XM_017017670.2:c.775A>T	XP_016873159.1:p.Arg259Trp
XR_949903.3:n.1884A>T
NM_002180.3:c.1786A>T MANE Select	NP_002171.2:p.Arg596Trp