Canonical Allele Identifier: CA381653644

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704389A>C (hg19) ; chr11:g.68936921A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936921A>C , CM000673.2:g.68936921A>C	GRCh38
NC_000011.9:g.68704389A>C , CM000673.1:g.68704389A>C	GRCh37
NC_000011.8:g.68460965A>C	NCBI36
NG_007976.1:g.38071A>C , LRG_250:g.38071A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2441A>C MANE Select	ENSP00000255078.4:p.Gln814Pro
ENST00000674675.1:c.588-2A>C
ENST00000674878.1:c.548-2A>C
ENST00000675118.1:c.1929A>C
ENST00000675389.1:n.716A>C
ENST00000675615.1:c.2441A>C	ENSP00000502413.1:p.Gln814Pro
ENST00000675648.1:n.1816A>C
ENST00000675916.1:c.685A>C
ENST00000676173.1:n.3186A>C
ENST00000676182.1:c.872A>C
ENST00000676228.1:c.*1764A>C	ENSP00000502375.1:n.*1764A>C
ENST00000255078.7:c.2441A>C	ENSP00000255078.3:p.Gln814Pro
ENST00000539064.5:n.2200A>C
ENST00000543739.5:n.1434A>C
NM_002180.2:c.2441A>C , LRG_250t1:c.2441A>C	NP_002171.2:p.Gln814Pro
XM_005273974.2:c.1430A>C	XP_005274031.1:p.Gln477Pro
XM_005273975.2:c.1313A>C	XP_005274032.1:p.Gln438Pro
XM_011544994.1:c.1208A>C	XP_011543296.1:p.Gln403Pro
XR_949903.1:n.2543A>C
XM_005273975.3:c.1313A>C	XP_005274032.1:p.Gln438Pro
XM_017017669.2:c.1430A>C	XP_016873158.1:p.Gln477Pro
XM_017017670.2:c.1430A>C	XP_016873159.1:p.Gln477Pro
XR_949903.3:n.2539A>C
NM_002180.3:c.2441A>C MANE Select	NP_002171.2:p.Gln814Pro