Canonical Allele Identifier: CA2740093104

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2949901
• ClinVar RCV Id: RCV003807259

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908580_68908583del , CM000673.2:g.68908580_68908583del	GRCh38
NC_000011.9:g.68676048_68676051del , CM000673.1:g.68676048_68676051del	GRCh37
NC_000011.8:g.68432624_68432627del	NCBI36
NG_007976.1:g.9730_9733del , LRG_250:g.9730_9733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.496_499del MANE Select	ENSP00000255078.4:p.Leu166Ter
ENST00000539224.2:c.459_462del
ENST00000674583.1:c.459_462del
ENST00000674597.1:c.307_310del
ENST00000674955.1:c.496_499del	ENSP00000502463.1:p.Leu166Ter
ENST00000675142.1:n.459_462del
ENST00000675469.1:c.372_375del
ENST00000675615.1:c.496_499del	ENSP00000502413.1:p.Leu166Ter
ENST00000675674.1:n.459_462del
ENST00000675683.1:c.47_50del
ENST00000675873.1:c.459_462del
ENST00000676173.1:n.540_543del
ENST00000676228.1:c.449+243_449+246del	ENSP00000502375.1:n.449+243_449+246del
ENST00000255078.7:c.496_499del	ENSP00000255078.3:p.Leu166Ter
ENST00000539224.1:c.449+243_449+246del	ENSP00000440465.1:n.449+243_449+246del
ENST00000544541.1:c.*236_*239del	ENSP00000443343.1:n.*236_*239del
NM_002180.2:c.496_499del , LRG_250t1:c.496_499del	NP_002171.2:p.Leu166Ter
XM_005273974.2:c.-516_-513del	XP_005274031.1:n.-516_-513del
XM_005273976.1:c.496_499del	XP_005274033.1:p.Leu166Ter
XR_247198.1:n.598_601del
XR_949903.1:n.598_601del
XM_005273976.2:c.496_499del	XP_005274033.1:p.Leu166Ter
XM_017017669.2:c.-465+243_-465+246del	XP_016873158.1:n.-465+243_-465+246del
XM_017017671.2:c.496_499del	XP_016873160.1:p.Leu166Ter
XR_949903.3:n.594_597del
NM_002180.3:c.496_499del MANE Select	NP_002171.2:p.Leu166Ter