Canonical Allele Identifier: CA381653286

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1311240840
• gnomAD v3: 11-68936800-G-C
• gnomAD v4: 11-68936800-G-C
• MyVariant Identifiers: chr11:g.68704268G>C (hg19) ; chr11:g.68936800G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936800G>C , CM000673.2:g.68936800G>C	GRCh38
NC_000011.9:g.68704268G>C , CM000673.1:g.68704268G>C	GRCh37
NC_000011.8:g.68460844G>C	NCBI36
NG_007976.1:g.37950G>C , LRG_250:g.37950G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2320G>C MANE Select	ENSP00000255078.4:p.Glu774Gln
ENST00000674675.1:c.564G>C
ENST00000674878.1:c.547+17G>C
ENST00000674955.1:c.*1037G>C	ENSP00000502463.1:n.*1037G>C
ENST00000675118.1:c.1808G>C
ENST00000675389.1:n.595G>C
ENST00000675615.1:c.2320G>C	ENSP00000502413.1:p.Glu774Gln
ENST00000675648.1:n.1695G>C
ENST00000675916.1:c.564G>C
ENST00000676173.1:n.3065G>C
ENST00000676182.1:c.751G>C
ENST00000676228.1:c.*1643G>C	ENSP00000502375.1:n.*1643G>C
ENST00000255078.7:c.2320G>C	ENSP00000255078.3:p.Glu774Gln
ENST00000539064.5:n.2079G>C
ENST00000543739.5:n.1313G>C
NM_002180.2:c.2320G>C , LRG_250t1:c.2320G>C	NP_002171.2:p.Glu774Gln
XM_005273974.2:c.1309G>C	XP_005274031.1:p.Glu437Gln
XM_005273975.2:c.1192G>C	XP_005274032.1:p.Glu398Gln
XM_011544994.1:c.1087G>C	XP_011543296.1:p.Glu363Gln
XR_949903.1:n.2422G>C
XM_005273975.3:c.1192G>C	XP_005274032.1:p.Glu398Gln
XM_017017669.2:c.1309G>C	XP_016873158.1:p.Glu437Gln
XM_017017670.2:c.1309G>C	XP_016873159.1:p.Glu437Gln
XR_949903.3:n.2418G>C
NM_002180.3:c.2320G>C MANE Select	NP_002171.2:p.Glu774Gln