Canonical Allele Identifier: CA381653235

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704244G>C (hg19) ; chr11:g.68936776G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936776G>C , CM000673.2:g.68936776G>C	GRCh38
NC_000011.9:g.68704244G>C , CM000673.1:g.68704244G>C	GRCh37
NC_000011.8:g.68460820G>C	NCBI36
NG_007976.1:g.37926G>C , LRG_250:g.37926G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2296G>C MANE Select	ENSP00000255078.4:p.Gly766Arg
ENST00000674675.1:c.540G>C
ENST00000674878.1:c.540G>C
ENST00000674955.1:c.*1013G>C	ENSP00000502463.1:n.*1013G>C
ENST00000675118.1:c.1784G>C
ENST00000675389.1:n.571G>C
ENST00000675615.1:c.2296G>C	ENSP00000502413.1:p.Gly766Arg
ENST00000675648.1:n.1671G>C
ENST00000675916.1:c.540G>C
ENST00000676173.1:n.3041G>C
ENST00000676182.1:c.727G>C
ENST00000676228.1:c.*1619G>C	ENSP00000502375.1:n.*1619G>C
ENST00000255078.7:c.2296G>C	ENSP00000255078.3:p.Gly766Arg
ENST00000539064.5:n.2055G>C
ENST00000543739.5:n.1289G>C
NM_002180.2:c.2296G>C , LRG_250t1:c.2296G>C	NP_002171.2:p.Gly766Arg
XM_005273974.2:c.1285G>C	XP_005274031.1:p.Gly429Arg
XM_005273975.2:c.1168G>C	XP_005274032.1:p.Gly390Arg
XM_011544994.1:c.1063G>C	XP_011543296.1:p.Gly355Arg
XR_949903.1:n.2398G>C
XM_005273975.3:c.1168G>C	XP_005274032.1:p.Gly390Arg
XM_017017669.2:c.1285G>C	XP_016873158.1:p.Gly429Arg
XM_017017670.2:c.1285G>C	XP_016873159.1:p.Gly429Arg
XR_949903.3:n.2394G>C
NM_002180.3:c.2296G>C MANE Select	NP_002171.2:p.Gly766Arg