Canonical Allele Identifier: CA381653702

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704407G>C (hg19) ; chr11:g.68936939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936939G>C , CM000673.2:g.68936939G>C	GRCh38
NC_000011.9:g.68704407G>C , CM000673.1:g.68704407G>C	GRCh37
NC_000011.8:g.68460983G>C	NCBI36
NG_007976.1:g.38089G>C , LRG_250:g.38089G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2459G>C MANE Select	ENSP00000255078.4:p.Arg820Thr
ENST00000674675.1:c.604G>C
ENST00000674878.1:c.564G>C
ENST00000675118.1:c.1947G>C
ENST00000675389.1:n.734G>C
ENST00000675615.1:c.2459G>C	ENSP00000502413.1:p.Arg820Thr
ENST00000675648.1:n.1834G>C
ENST00000675916.1:c.703G>C
ENST00000676173.1:n.3204G>C
ENST00000676182.1:c.890G>C
ENST00000676228.1:c.*1782G>C	ENSP00000502375.1:n.*1782G>C
ENST00000255078.7:c.2459G>C	ENSP00000255078.3:p.Arg820Thr
ENST00000539064.5:n.2218G>C
ENST00000543739.5:n.1452G>C
NM_002180.2:c.2459G>C , LRG_250t1:c.2459G>C	NP_002171.2:p.Arg820Thr
XM_005273974.2:c.1448G>C	XP_005274031.1:p.Arg483Thr
XM_005273975.2:c.1331G>C	XP_005274032.1:p.Arg444Thr
XM_011544994.1:c.1226G>C	XP_011543296.1:p.Arg409Thr
XR_949903.1:n.2561G>C
XM_005273975.3:c.1331G>C	XP_005274032.1:p.Arg444Thr
XM_017017669.2:c.1448G>C	XP_016873158.1:p.Arg483Thr
XM_017017670.2:c.1448G>C	XP_016873159.1:p.Arg483Thr
XR_949903.3:n.2557G>C
NM_002180.3:c.2459G>C MANE Select	NP_002171.2:p.Arg820Thr