Canonical Allele Identifier: CA381653720

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704413A>C (hg19) ; chr11:g.68936945A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936945A>C , CM000673.2:g.68936945A>C	GRCh38
NC_000011.9:g.68704413A>C , CM000673.1:g.68704413A>C	GRCh37
NC_000011.8:g.68460989A>C	NCBI36
NG_007976.1:g.38095A>C , LRG_250:g.38095A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2465A>C MANE Select	ENSP00000255078.4:p.Gln822Pro
ENST00000674675.1:c.610A>C
ENST00000674878.1:c.570A>C
ENST00000675118.1:c.1953A>C
ENST00000675389.1:n.740A>C
ENST00000675615.1:c.2465A>C	ENSP00000502413.1:p.Gln822Pro
ENST00000675648.1:n.1840A>C
ENST00000675916.1:c.709A>C
ENST00000676173.1:n.3210A>C
ENST00000676182.1:c.896A>C
ENST00000676228.1:c.*1788A>C	ENSP00000502375.1:n.*1788A>C
ENST00000255078.7:c.2465A>C	ENSP00000255078.3:p.Gln822Pro
ENST00000539064.5:n.2224A>C
ENST00000543739.5:n.1458A>C
NM_002180.2:c.2465A>C , LRG_250t1:c.2465A>C	NP_002171.2:p.Gln822Pro
XM_005273974.2:c.1454A>C	XP_005274031.1:p.Gln485Pro
XM_005273975.2:c.1337A>C	XP_005274032.1:p.Gln446Pro
XM_011544994.1:c.1232A>C	XP_011543296.1:p.Gln411Pro
XR_949903.1:n.2567A>C
XM_005273975.3:c.1337A>C	XP_005274032.1:p.Gln446Pro
XM_017017669.2:c.1454A>C	XP_016873158.1:p.Gln485Pro
XM_017017670.2:c.1454A>C	XP_016873159.1:p.Gln485Pro
XR_949903.3:n.2563A>C
NM_002180.3:c.2465A>C MANE Select	NP_002171.2:p.Gln822Pro