Canonical Allele Identifier: CA381653244

Gene: IGHMBP2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2300T>A MANE Select	ENSP00000255078.4:p.Leu767Gln
ENST00000674675.1:c.544T>A
ENST00000674878.1:c.544T>A
ENST00000674955.1:c.*1017T>A	ENSP00000502463.1:n.*1017T>A
ENST00000675118.1:c.1788T>A
ENST00000675389.1:n.575T>A
ENST00000675615.1:c.2300T>A	ENSP00000502413.1:p.Leu767Gln
ENST00000675648.1:n.1675T>A
ENST00000675916.1:c.544T>A
ENST00000676173.1:n.3045T>A
ENST00000676182.1:c.731T>A
ENST00000676228.1:c.*1623T>A	ENSP00000502375.1:n.*1623T>A
ENST00000255078.7:c.2300T>A	ENSP00000255078.3:p.Leu767Gln
ENST00000539064.5:n.2059T>A
ENST00000543739.5:n.1293T>A
NM_002180.2:c.2300T>A , LRG_250t1:c.2300T>A	NP_002171.2:p.Leu767Gln
XM_005273974.2:c.1289T>A	XP_005274031.1:p.Leu430Gln
XM_005273975.2:c.1172T>A	XP_005274032.1:p.Leu391Gln
XM_011544994.1:c.1067T>A	XP_011543296.1:p.Leu356Gln
XR_949903.1:n.2402T>A
XM_005273975.3:c.1172T>A	XP_005274032.1:p.Leu391Gln
XM_017017669.2:c.1289T>A	XP_016873158.1:p.Leu430Gln
XM_017017670.2:c.1289T>A	XP_016873159.1:p.Leu430Gln
XR_949903.3:n.2398T>A
NM_002180.3:c.2300T>A MANE Select	NP_002171.2:p.Leu767Gln