Canonical Allele Identifier: CA10639270

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 305849
• ClinVar RCV Id: RCV000282819 ; RCV002520754 ; RCV002418155
• dbSNP Id: rs886048606
• gnomAD v2: 11-68703988-G-A
• gnomAD v3: 11-68936520-G-A
• gnomAD v4: 11-68936520-G-A
• MyVariant Identifiers: chr11:g.68703988G>A (hg19) ; chr11:g.68936520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936520G>A , CM000673.2:g.68936520G>A	GRCh38
NC_000011.9:g.68703988G>A , CM000673.1:g.68703988G>A	GRCh37
NC_000011.8:g.68460564G>A	NCBI36
NG_007976.1:g.37670G>A , LRG_250:g.37670G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2040G>A MANE Select	ENSP00000255078.4:p.Gln680=
ENST00000674675.1:c.284G>A
ENST00000674878.1:c.284G>A
ENST00000674955.1:c.*757G>A	ENSP00000502463.1:n.*757G>A
ENST00000675118.1:c.1528G>A
ENST00000675389.1:n.315G>A
ENST00000675615.1:c.2040G>A	ENSP00000502413.1:p.Gln680=
ENST00000675648.1:n.1415G>A
ENST00000675916.1:c.284G>A
ENST00000676173.1:n.2785G>A
ENST00000676182.1:c.471G>A
ENST00000676228.1:c.*1363G>A	ENSP00000502375.1:n.*1363G>A
ENST00000255078.7:c.2040G>A	ENSP00000255078.3:p.Gln680=
ENST00000539064.5:n.1799G>A
ENST00000543739.5:n.1033G>A
NM_002180.2:c.2040G>A , LRG_250t1:c.2040G>A	NP_002171.2:p.Gln680=
XM_005273974.2:c.1029G>A	XP_005274031.1:p.Gln343=
XM_005273975.2:c.912G>A	XP_005274032.1:p.Gln304=
XM_011544994.1:c.807G>A	XP_011543296.1:p.Gln269=
XR_949903.1:n.2142G>A
XM_005273975.3:c.912G>A	XP_005274032.1:p.Gln304=
XM_017017669.2:c.1029G>A	XP_016873158.1:p.Gln343=
XM_017017670.2:c.1029G>A	XP_016873159.1:p.Gln343=
XR_949903.3:n.2138G>A
NM_002180.3:c.2040G>A MANE Select	NP_002171.2:p.Gln680=