Canonical Allele Identifier: CA2740093101

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2943758
• ClinVar RCV Id: RCV003803316

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908168_68908174del , CM000673.2:g.68908168_68908174del	GRCh38
NC_000011.9:g.68675636_68675642del , CM000673.1:g.68675636_68675642del	GRCh37
NC_000011.8:g.68432212_68432218del	NCBI36
NG_007976.1:g.9318_9324del , LRG_250:g.9318_9324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.280_286del MANE Select	ENSP00000255078.4:p.Ala94MetfsTer11
ENST00000539224.2:c.243_249del
ENST00000674583.1:c.243_249del
ENST00000674597.1:c.91_97del
ENST00000674955.1:c.280_286del	ENSP00000502463.1:p.Ala94MetfsTer11
ENST00000675142.1:n.243_249del
ENST00000675469.1:c.156_162del
ENST00000675615.1:c.280_286del	ENSP00000502413.1:p.Ala94MetfsTer11
ENST00000675674.1:n.243_249del
ENST00000675873.1:c.243_249del
ENST00000676173.1:n.324_330del
ENST00000676228.1:c.280_286del	ENSP00000502375.1:p.Ala94MetfsTer11
ENST00000255078.7:c.280_286del	ENSP00000255078.3:p.Ala94MetfsTer11
ENST00000539224.1:c.280_286del	ENSP00000440465.1:p.Ala94MetfsTer11
ENST00000544541.1:c.*20_*26del	ENSP00000443343.1:n.*20_*26del
ENST00000545146.1:c.*150_*156del	ENSP00000456366.1:n.*150_*156del
NM_002180.2:c.280_286del , LRG_250t1:c.280_286del	NP_002171.2:p.Ala94MetfsTer11
XM_005273974.2:c.-732_-726del	XP_005274031.1:n.-732_-726del
XM_005273976.1:c.280_286del	XP_005274033.1:p.Ala94MetfsTer11
XR_247198.1:n.382_388del
XR_949903.1:n.382_388del
XM_005273976.2:c.280_286del	XP_005274033.1:p.Ala94MetfsTer11
XM_017017669.2:c.-634_-628del	XP_016873158.1:n.-634_-628del
XM_017017671.2:c.280_286del	XP_016873160.1:p.Ala94MetfsTer11
XR_949903.3:n.378_384del
NM_002180.3:c.280_286del MANE Select	NP_002171.2:p.Ala94MetfsTer11