Canonical Allele Identifier: CA381652782

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704035A>G (hg19) ; chr11:g.68936567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936567A>G , CM000673.2:g.68936567A>G	GRCh38
NC_000011.9:g.68704035A>G , CM000673.1:g.68704035A>G	GRCh37
NC_000011.8:g.68460611A>G	NCBI36
NG_007976.1:g.37717A>G , LRG_250:g.37717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2087A>G MANE Select	ENSP00000255078.4:p.Lys696Arg
ENST00000674675.1:c.331A>G
ENST00000674878.1:c.331A>G
ENST00000674955.1:c.*804A>G	ENSP00000502463.1:n.*804A>G
ENST00000675118.1:c.1575A>G
ENST00000675389.1:n.362A>G
ENST00000675615.1:c.2087A>G	ENSP00000502413.1:p.Lys696Arg
ENST00000675648.1:n.1462A>G
ENST00000675916.1:c.331A>G
ENST00000676173.1:n.2832A>G
ENST00000676182.1:c.518A>G
ENST00000676228.1:c.*1410A>G	ENSP00000502375.1:n.*1410A>G
ENST00000255078.7:c.2087A>G	ENSP00000255078.3:p.Lys696Arg
ENST00000539064.5:n.1846A>G
ENST00000543739.5:n.1080A>G
NM_002180.2:c.2087A>G , LRG_250t1:c.2087A>G	NP_002171.2:p.Lys696Arg
XM_005273974.2:c.1076A>G	XP_005274031.1:p.Lys359Arg
XM_005273975.2:c.959A>G	XP_005274032.1:p.Lys320Arg
XM_011544994.1:c.854A>G	XP_011543296.1:p.Lys285Arg
XR_949903.1:n.2189A>G
XM_005273975.3:c.959A>G	XP_005274032.1:p.Lys320Arg
XM_017017669.2:c.1076A>G	XP_016873158.1:p.Lys359Arg
XM_017017670.2:c.1076A>G	XP_016873159.1:p.Lys359Arg
XR_949903.3:n.2185A>G
NM_002180.3:c.2087A>G MANE Select	NP_002171.2:p.Lys696Arg