Canonical Allele Identifier: CA475280787

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1298159780
• gnomAD v4: 11-68936823-T-C
• MyVariant Identifiers: chr11:g.68704291T>C (hg19) ; chr11:g.68936823T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936823T>C , CM000673.2:g.68936823T>C	GRCh38
NC_000011.9:g.68704291T>C , CM000673.1:g.68704291T>C	GRCh37
NC_000011.8:g.68460867T>C	NCBI36
NG_007976.1:g.37973T>C , LRG_250:g.37973T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2343T>C MANE Select	ENSP00000255078.4:p.Thr781=
ENST00000674675.1:c.587T>C
ENST00000674878.1:c.547+40T>C
ENST00000674955.1:c.*1060T>C	ENSP00000502463.1:n.*1060T>C
ENST00000675118.1:c.1831T>C
ENST00000675389.1:n.618T>C
ENST00000675615.1:c.2343T>C	ENSP00000502413.1:p.Thr781=
ENST00000675648.1:n.1718T>C
ENST00000675916.1:c.587T>C
ENST00000676173.1:n.3088T>C
ENST00000676182.1:c.774T>C
ENST00000676228.1:c.*1666T>C	ENSP00000502375.1:n.*1666T>C
ENST00000255078.7:c.2343T>C	ENSP00000255078.3:p.Thr781=
ENST00000539064.5:n.2102T>C
ENST00000543739.5:n.1336T>C
NM_002180.2:c.2343T>C , LRG_250t1:c.2343T>C	NP_002171.2:p.Thr781=
XM_005273974.2:c.1332T>C	XP_005274031.1:p.Thr444=
XM_005273975.2:c.1215T>C	XP_005274032.1:p.Thr405=
XM_011544994.1:c.1110T>C	XP_011543296.1:p.Thr370=
XR_949903.1:n.2445T>C
XM_005273975.3:c.1215T>C	XP_005274032.1:p.Thr405=
XM_017017669.2:c.1332T>C	XP_016873158.1:p.Thr444=
XM_017017670.2:c.1332T>C	XP_016873159.1:p.Thr444=
XR_949903.3:n.2441T>C
NM_002180.3:c.2343T>C MANE Select	NP_002171.2:p.Thr781=