Canonical Allele Identifier: CA6154038

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 509006
• ClinVar RCV Id: RCV000728433 ; RCV001089366 ; RCV001113837 ; RCV002438568
• dbSNP Id: rs147918962
• ExAC: 11:68707061 G / A
• gnomAD v2: 11-68707061-G-A
• gnomAD v3: 11-68939593-G-A
• gnomAD v4: 11-68939593-G-A
• MyVariant Identifiers: chr11:g.68707061G>A (hg19) ; chr11:g.68939593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68939593G>A , CM000673.2:g.68939593G>A	GRCh38
NC_000011.9:g.68707061G>A , CM000673.1:g.68707061G>A	GRCh37
NC_000011.8:g.68463637G>A	NCBI36
NG_007976.1:g.40743G>A , LRG_250:g.40743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2844G>A MANE Select	ENSP00000255078.4:p.Gly948=
ENST00000675118.1:c.2332G>A
ENST00000675615.1:c.*43G>A	ENSP00000502413.1:n.*43G>A
ENST00000675648.1:n.2406G>A
ENST00000675916.1:c.1275G>A
ENST00000676173.1:n.3589G>A
ENST00000255078.7:c.2844G>A	ENSP00000255078.3:p.Gly948=
ENST00000543739.5:n.1837G>A
ENST00000544521.1:n.675G>A
NM_002180.2:c.2844G>A , LRG_250t1:c.2844G>A	NP_002171.2:p.Gly948=
XM_005273974.2:c.1833G>A	XP_005274031.1:p.Gly611=
XM_005273975.2:c.1716G>A	XP_005274032.1:p.Gly572=
XM_011544994.1:c.1611G>A	XP_011543296.1:p.Gly537=
XR_949903.1:n.3133G>A
XM_005273975.3:c.1716G>A	XP_005274032.1:p.Gly572=
XM_017017669.2:c.1833G>A	XP_016873158.1:p.Gly611=
XM_017017670.2:c.1833G>A	XP_016873159.1:p.Gly611=
XR_949903.3:n.3129G>A
NM_002180.3:c.2844G>A MANE Select	NP_002171.2:p.Gly948=