Canonical Allele Identifier: CA475279321

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704019A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936551A>C , CM000673.2:g.68936551A>C	GRCh38
NC_000011.9:g.68704019A>C , CM000673.1:g.68704019A>C	GRCh37
NC_000011.8:g.68460595A>C	NCBI36
NG_007976.1:g.37701A>C , LRG_250:g.37701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2071A>C MANE Select	ENSP00000255078.4:p.Arg691=
ENST00000674675.1:c.315A>C
ENST00000674878.1:c.315A>C
ENST00000674955.1:c.*788A>C	ENSP00000502463.1:n.*788A>C
ENST00000675118.1:c.1559A>C
ENST00000675389.1:n.346A>C
ENST00000675615.1:c.2071A>C	ENSP00000502413.1:p.Arg691=
ENST00000675648.1:n.1446A>C
ENST00000675916.1:c.315A>C
ENST00000676173.1:n.2816A>C
ENST00000676182.1:c.502A>C
ENST00000676228.1:c.*1394A>C	ENSP00000502375.1:n.*1394A>C
ENST00000255078.7:c.2071A>C	ENSP00000255078.3:p.Arg691=
ENST00000539064.5:n.1830A>C
ENST00000543739.5:n.1064A>C
NM_002180.2:c.2071A>C , LRG_250t1:c.2071A>C	NP_002171.2:p.Arg691=
XM_005273974.2:c.1060A>C	XP_005274031.1:p.Arg354=
XM_005273975.2:c.943A>C	XP_005274032.1:p.Arg315=
XM_011544994.1:c.838A>C	XP_011543296.1:p.Arg280=
XR_949903.1:n.2173A>C
XM_005273975.3:c.943A>C	XP_005274032.1:p.Arg315=
XM_017017669.2:c.1060A>C	XP_016873158.1:p.Arg354=
XM_017017670.2:c.1060A>C	XP_016873159.1:p.Arg354=
XR_949903.3:n.2169A>C
NM_002180.3:c.2071A>C MANE Select	NP_002171.2:p.Arg691=