Canonical Allele Identifier: CA381653495

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704343A>C (hg19) ; chr11:g.68936875A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936875A>C , CM000673.2:g.68936875A>C	GRCh38
NC_000011.9:g.68704343A>C , CM000673.1:g.68704343A>C	GRCh37
NC_000011.8:g.68460919A>C	NCBI36
NG_007976.1:g.38025A>C , LRG_250:g.38025A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2395A>C MANE Select	ENSP00000255078.4:p.Thr799Pro
ENST00000674675.1:c.588-48A>C
ENST00000674878.1:c.548-48A>C
ENST00000675118.1:c.1883A>C
ENST00000675389.1:n.670A>C
ENST00000675615.1:c.2395A>C	ENSP00000502413.1:p.Thr799Pro
ENST00000675648.1:n.1770A>C
ENST00000675916.1:c.639A>C
ENST00000676173.1:n.3140A>C
ENST00000676182.1:c.826A>C
ENST00000676228.1:c.*1718A>C	ENSP00000502375.1:n.*1718A>C
ENST00000255078.7:c.2395A>C	ENSP00000255078.3:p.Thr799Pro
ENST00000539064.5:n.2154A>C
ENST00000543739.5:n.1388A>C
NM_002180.2:c.2395A>C , LRG_250t1:c.2395A>C	NP_002171.2:p.Thr799Pro
XM_005273974.2:c.1384A>C	XP_005274031.1:p.Thr462Pro
XM_005273975.2:c.1267A>C	XP_005274032.1:p.Thr423Pro
XM_011544994.1:c.1162A>C	XP_011543296.1:p.Thr388Pro
XR_949903.1:n.2497A>C
XM_005273975.3:c.1267A>C	XP_005274032.1:p.Thr423Pro
XM_017017669.2:c.1384A>C	XP_016873158.1:p.Thr462Pro
XM_017017670.2:c.1384A>C	XP_016873159.1:p.Thr462Pro
XR_949903.3:n.2493A>C
NM_002180.3:c.2395A>C MANE Select	NP_002171.2:p.Thr799Pro