Canonical Allele Identifier: CA381651997

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936401-G-C
• MyVariant Identifiers: chr11:g.68703869G>C (hg19) ; chr11:g.68936401G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936401G>C , CM000673.2:g.68936401G>C	GRCh38
NC_000011.9:g.68703869G>C , CM000673.1:g.68703869G>C	GRCh37
NC_000011.8:g.68460445G>C	NCBI36
NG_007976.1:g.37551G>C , LRG_250:g.37551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1921G>C MANE Select	ENSP00000255078.4:p.Glu641Gln
ENST00000674675.1:c.165G>C
ENST00000674878.1:c.165G>C
ENST00000674955.1:c.*638G>C	ENSP00000502463.1:n.*638G>C
ENST00000675118.1:c.1409G>C
ENST00000675389.1:n.196G>C
ENST00000675615.1:c.1921G>C	ENSP00000502413.1:p.Glu641Gln
ENST00000675648.1:n.1296G>C
ENST00000675916.1:c.165G>C
ENST00000676173.1:n.2666G>C
ENST00000676182.1:c.352G>C
ENST00000676228.1:c.*1244G>C	ENSP00000502375.1:n.*1244G>C
ENST00000255078.7:c.1921G>C	ENSP00000255078.3:p.Glu641Gln
ENST00000539064.5:n.1680G>C
ENST00000543739.5:n.914G>C
ENST00000545475.1:n.517G>C
NM_002180.2:c.1921G>C , LRG_250t1:c.1921G>C	NP_002171.2:p.Glu641Gln
XM_005273974.2:c.910G>C	XP_005274031.1:p.Glu304Gln
XM_005273975.2:c.793G>C	XP_005274032.1:p.Glu265Gln
XM_011544994.1:c.688G>C	XP_011543296.1:p.Glu230Gln
XR_949903.1:n.2023G>C
XM_005273975.3:c.793G>C	XP_005274032.1:p.Glu265Gln
XM_017017669.2:c.910G>C	XP_016873158.1:p.Glu304Gln
XM_017017670.2:c.910G>C	XP_016873159.1:p.Glu304Gln
XR_949903.3:n.2019G>C
NM_002180.3:c.1921G>C MANE Select	NP_002171.2:p.Glu641Gln