Canonical Allele Identifier: CA381653450

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704326T>G (hg19) ; chr11:g.68936858T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936858T>G , CM000673.2:g.68936858T>G	GRCh38
NC_000011.9:g.68704326T>G , CM000673.1:g.68704326T>G	GRCh37
NC_000011.8:g.68460902T>G	NCBI36
NG_007976.1:g.38008T>G , LRG_250:g.38008T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2378T>G MANE Select	ENSP00000255078.4:p.Leu793Arg
ENST00000674675.1:c.587+35T>G
ENST00000674878.1:c.548-65T>G
ENST00000674955.1:c.*1095T>G	ENSP00000502463.1:n.*1095T>G
ENST00000675118.1:c.1866T>G
ENST00000675389.1:n.653T>G
ENST00000675615.1:c.2378T>G	ENSP00000502413.1:p.Leu793Arg
ENST00000675648.1:n.1753T>G
ENST00000675916.1:c.622T>G
ENST00000676173.1:n.3123T>G
ENST00000676182.1:c.809T>G
ENST00000676228.1:c.*1701T>G	ENSP00000502375.1:n.*1701T>G
ENST00000255078.7:c.2378T>G	ENSP00000255078.3:p.Leu793Arg
ENST00000539064.5:n.2137T>G
ENST00000543739.5:n.1371T>G
NM_002180.2:c.2378T>G , LRG_250t1:c.2378T>G	NP_002171.2:p.Leu793Arg
XM_005273974.2:c.1367T>G	XP_005274031.1:p.Leu456Arg
XM_005273975.2:c.1250T>G	XP_005274032.1:p.Leu417Arg
XM_011544994.1:c.1145T>G	XP_011543296.1:p.Leu382Arg
XR_949903.1:n.2480T>G
XM_005273975.3:c.1250T>G	XP_005274032.1:p.Leu417Arg
XM_017017669.2:c.1367T>G	XP_016873158.1:p.Leu456Arg
XM_017017670.2:c.1367T>G	XP_016873159.1:p.Leu456Arg
XR_949903.3:n.2476T>G
NM_002180.3:c.2378T>G MANE Select	NP_002171.2:p.Leu793Arg