Canonical Allele Identifier: CA475279009

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2924879
• ClinVar RCV Id: RCV003788581
• dbSNP Id: rs1235731970
• gnomAD v2: 11-68703961-G-A
• gnomAD v4: 11-68936493-G-A
• MyVariant Identifiers: chr11:g.68703961G>A (hg19) ; chr11:g.68936493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936493G>A , CM000673.2:g.68936493G>A	GRCh38
NC_000011.9:g.68703961G>A , CM000673.1:g.68703961G>A	GRCh37
NC_000011.8:g.68460537G>A	NCBI36
NG_007976.1:g.37643G>A , LRG_250:g.37643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2013G>A MANE Select	ENSP00000255078.4:p.Thr671=
ENST00000674675.1:c.257G>A
ENST00000674878.1:c.257G>A
ENST00000674955.1:c.*730G>A	ENSP00000502463.1:n.*730G>A
ENST00000675118.1:c.1501G>A
ENST00000675389.1:n.288G>A
ENST00000675615.1:c.2013G>A	ENSP00000502413.1:p.Thr671=
ENST00000675648.1:n.1388G>A
ENST00000675916.1:c.257G>A
ENST00000676173.1:n.2758G>A
ENST00000676182.1:c.444G>A
ENST00000676228.1:c.*1336G>A	ENSP00000502375.1:n.*1336G>A
ENST00000255078.7:c.2013G>A	ENSP00000255078.3:p.Thr671=
ENST00000539064.5:n.1772G>A
ENST00000543739.5:n.1006G>A
NM_002180.2:c.2013G>A , LRG_250t1:c.2013G>A	NP_002171.2:p.Thr671=
XM_005273974.2:c.1002G>A	XP_005274031.1:p.Thr334=
XM_005273975.2:c.885G>A	XP_005274032.1:p.Thr295=
XM_011544994.1:c.780G>A	XP_011543296.1:p.Thr260=
XR_949903.1:n.2115G>A
XM_005273975.3:c.885G>A	XP_005274032.1:p.Thr295=
XM_017017669.2:c.1002G>A	XP_016873158.1:p.Thr334=
XM_017017670.2:c.1002G>A	XP_016873159.1:p.Thr334=
XR_949903.3:n.2111G>A
NM_002180.3:c.2013G>A MANE Select	NP_002171.2:p.Thr671=