Canonical Allele Identifier: CA381653243

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704248T>G (hg19) ; chr11:g.68936780T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936780T>G , CM000673.2:g.68936780T>G	GRCh38
NC_000011.9:g.68704248T>G , CM000673.1:g.68704248T>G	GRCh37
NC_000011.8:g.68460824T>G	NCBI36
NG_007976.1:g.37930T>G , LRG_250:g.37930T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2300T>G MANE Select	ENSP00000255078.4:p.Leu767Arg
ENST00000674675.1:c.544T>G
ENST00000674878.1:c.544T>G
ENST00000674955.1:c.*1017T>G	ENSP00000502463.1:n.*1017T>G
ENST00000675118.1:c.1788T>G
ENST00000675389.1:n.575T>G
ENST00000675615.1:c.2300T>G	ENSP00000502413.1:p.Leu767Arg
ENST00000675648.1:n.1675T>G
ENST00000675916.1:c.544T>G
ENST00000676173.1:n.3045T>G
ENST00000676182.1:c.731T>G
ENST00000676228.1:c.*1623T>G	ENSP00000502375.1:n.*1623T>G
ENST00000255078.7:c.2300T>G	ENSP00000255078.3:p.Leu767Arg
ENST00000539064.5:n.2059T>G
ENST00000543739.5:n.1293T>G
NM_002180.2:c.2300T>G , LRG_250t1:c.2300T>G	NP_002171.2:p.Leu767Arg
XM_005273974.2:c.1289T>G	XP_005274031.1:p.Leu430Arg
XM_005273975.2:c.1172T>G	XP_005274032.1:p.Leu391Arg
XM_011544994.1:c.1067T>G	XP_011543296.1:p.Leu356Arg
XR_949903.1:n.2402T>G
XM_005273975.3:c.1172T>G	XP_005274032.1:p.Leu391Arg
XM_017017669.2:c.1289T>G	XP_016873158.1:p.Leu430Arg
XM_017017670.2:c.1289T>G	XP_016873159.1:p.Leu430Arg
XR_949903.3:n.2398T>G
NM_002180.3:c.2300T>G MANE Select	NP_002171.2:p.Leu767Arg