Canonical Allele Identifier: CA381652489

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68703897A>C (hg19) ; chr11:g.68936429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936429A>C , CM000673.2:g.68936429A>C	GRCh38
NC_000011.9:g.68703897A>C , CM000673.1:g.68703897A>C	GRCh37
NC_000011.8:g.68460473A>C	NCBI36
NG_007976.1:g.37579A>C , LRG_250:g.37579A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1949A>C MANE Select	ENSP00000255078.4:p.Asn650Thr
ENST00000674675.1:c.193A>C
ENST00000674878.1:c.193A>C
ENST00000674955.1:c.*666A>C	ENSP00000502463.1:n.*666A>C
ENST00000675118.1:c.1437A>C
ENST00000675389.1:n.224A>C
ENST00000675615.1:c.1949A>C	ENSP00000502413.1:p.Asn650Thr
ENST00000675648.1:n.1324A>C
ENST00000675916.1:c.193A>C
ENST00000676173.1:n.2694A>C
ENST00000676182.1:c.380A>C
ENST00000676228.1:c.*1272A>C	ENSP00000502375.1:n.*1272A>C
ENST00000255078.7:c.1949A>C	ENSP00000255078.3:p.Asn650Thr
ENST00000539064.5:n.1708A>C
ENST00000543739.5:n.942A>C
ENST00000545475.1:n.545A>C
NM_002180.2:c.1949A>C , LRG_250t1:c.1949A>C	NP_002171.2:p.Asn650Thr
XM_005273974.2:c.938A>C	XP_005274031.1:p.Asn313Thr
XM_005273975.2:c.821A>C	XP_005274032.1:p.Asn274Thr
XM_011544994.1:c.716A>C	XP_011543296.1:p.Asn239Thr
XR_949903.1:n.2051A>C
XM_005273975.3:c.821A>C	XP_005274032.1:p.Asn274Thr
XM_017017669.2:c.938A>C	XP_016873158.1:p.Asn313Thr
XM_017017670.2:c.938A>C	XP_016873159.1:p.Asn313Thr
XR_949903.3:n.2047A>C
NM_002180.3:c.1949A>C MANE Select	NP_002171.2:p.Asn650Thr