Canonical Allele Identifier: CA381650030

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68701330T>C (hg19) ; chr11:g.68933862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933862T>C , CM000673.2:g.68933862T>C	GRCh38
NC_000011.9:g.68701330T>C , CM000673.1:g.68701330T>C	GRCh37
NC_000011.8:g.68457906T>C	NCBI36
NG_007976.1:g.35012T>C , LRG_250:g.35012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1486T>C MANE Select	ENSP00000255078.4:p.Cys496Arg
ENST00000674955.1:c.*203T>C	ENSP00000502463.1:n.*203T>C
ENST00000675118.1:c.974T>C
ENST00000675205.1:n.183+381T>C
ENST00000675615.1:c.1486T>C	ENSP00000502413.1:p.Cys496Arg
ENST00000675648.1:n.861T>C
ENST00000675997.1:n.113-602T>C
ENST00000676173.1:n.2231T>C
ENST00000676228.1:c.*809T>C	ENSP00000502375.1:n.*809T>C
ENST00000255078.7:c.1486T>C	ENSP00000255078.3:p.Cys496Arg
ENST00000537458.5:n.603T>C
ENST00000539064.5:n.1245T>C
ENST00000541229.5:n.181T>C
ENST00000543739.5:n.603T>C
NM_002180.2:c.1486T>C , LRG_250t1:c.1486T>C	NP_002171.2:p.Cys496Arg
XM_005273974.2:c.475T>C	XP_005274031.1:p.Cys159Arg
XM_005273975.2:c.358T>C	XP_005274032.1:p.Cys120Arg
XM_011544994.1:c.253T>C	XP_011543296.1:p.Cys85Arg
XR_949903.1:n.1588T>C
XM_005273975.3:c.358T>C	XP_005274032.1:p.Cys120Arg
XM_017017669.2:c.475T>C	XP_016873158.1:p.Cys159Arg
XM_017017670.2:c.475T>C	XP_016873159.1:p.Cys159Arg
XM_017017671.2:c.1486T>C	XP_016873160.1:p.Cys496Arg
XR_949903.3:n.1584T>C
NM_002180.3:c.1486T>C MANE Select	NP_002171.2:p.Cys496Arg