Canonical Allele Identifier: CA351262

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 242499
• ClinVar RCV Id: RCV000584806 ; RCV003765465
• dbSNP Id: rs863224880
• MyVariant Identifiers: chr11:g.68673542G>A (hg19) ; chr11:g.68906074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68906074G>A , CM000673.2:g.68906074G>A	GRCh38
NC_000011.9:g.68673542G>A , CM000673.1:g.68673542G>A	GRCh37
NC_000011.8:g.68430118G>A	NCBI36
NG_007976.1:g.7224G>A , LRG_250:g.7224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.92G>A MANE Select	ENSP00000255078.4:p.Trp31Ter
ENST00000539224.2:c.55G>A
ENST00000674583.1:c.55G>A
ENST00000674597.1:c.6G>A
ENST00000674729.1:n.35G>A
ENST00000674955.1:c.92G>A	ENSP00000502463.1:p.Trp31Ter
ENST00000675142.1:n.55G>A
ENST00000675469.1:c.6G>A
ENST00000675615.1:c.92G>A	ENSP00000502413.1:p.Trp31Ter
ENST00000675674.1:n.55G>A
ENST00000675800.1:n.37G>A
ENST00000675873.1:c.55G>A
ENST00000676173.1:n.132G>A
ENST00000676228.1:c.92G>A	ENSP00000502375.1:p.Trp31Ter
ENST00000255078.7:c.92G>A	ENSP00000255078.3:p.Trp31Ter
ENST00000539224.1:c.92G>A	ENSP00000440465.1:p.Trp31Ter
ENST00000544541.1:c.86+2036G>A	ENSP00000443343.1:n.86+2036G>A
ENST00000545146.1:c.92G>A	ENSP00000456366.1:p.Trp31Ter
NM_002180.2:c.92G>A , LRG_250t1:c.92G>A	NP_002171.2:p.Trp31Ter
XM_005273974.2:c.-924G>A	XP_005274031.1:n.-924G>A
XM_005273976.1:c.92G>A	XP_005274033.1:p.Trp31Ter
XR_247198.1:n.194G>A
XR_949903.1:n.194G>A
XM_005273976.2:c.92G>A	XP_005274033.1:p.Trp31Ter
XM_017017669.2:c.-822G>A	XP_016873158.1:n.-822G>A
XM_017017671.2:c.92G>A	XP_016873160.1:p.Trp31Ter
XR_949903.3:n.190G>A
NM_002180.3:c.92G>A MANE Select	NP_002171.2:p.Trp31Ter