Canonical Allele Identifier: CA381642999

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 658936
• ClinVar RCV Id: RCV000815859
• dbSNP Id: rs1594417834
• gnomAD v4: 11-68908145-G-A
• MyVariant Identifiers: chr11:g.68675613G>A (hg19) ; chr11:g.68908145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908145G>A , CM000673.2:g.68908145G>A	GRCh38
NC_000011.9:g.68675613G>A , CM000673.1:g.68675613G>A	GRCh37
NC_000011.8:g.68432189G>A	NCBI36
NG_007976.1:g.9295G>A , LRG_250:g.9295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.257G>A MANE Select	ENSP00000255078.4:p.Gly86Asp
ENST00000539224.2:c.220G>A
ENST00000674583.1:c.220G>A
ENST00000674597.1:c.68G>A
ENST00000674955.1:c.257G>A	ENSP00000502463.1:p.Gly86Asp
ENST00000675142.1:n.220G>A
ENST00000675469.1:c.133G>A
ENST00000675615.1:c.257G>A	ENSP00000502413.1:p.Gly86Asp
ENST00000675674.1:n.220G>A
ENST00000675873.1:c.220G>A
ENST00000676173.1:n.301G>A
ENST00000676228.1:c.257G>A	ENSP00000502375.1:p.Gly86Asp
ENST00000255078.7:c.257G>A	ENSP00000255078.3:p.Gly86Asp
ENST00000539224.1:c.257G>A	ENSP00000440465.1:p.Gly86Asp
ENST00000544541.1:c.87G>A	ENSP00000443343.1:p.Arg29=
ENST00000545146.1:c.*127G>A	ENSP00000456366.1:n.*127G>A
NM_002180.2:c.257G>A , LRG_250t1:c.257G>A	NP_002171.2:p.Gly86Asp
XM_005273974.2:c.-755G>A	XP_005274031.1:n.-755G>A
XM_005273976.1:c.257G>A	XP_005274033.1:p.Gly86Asp
XR_247198.1:n.359G>A
XR_949903.1:n.359G>A
XM_005273976.2:c.257G>A	XP_005274033.1:p.Gly86Asp
XM_017017669.2:c.-657G>A	XP_016873158.1:n.-657G>A
XM_017017671.2:c.257G>A	XP_016873160.1:p.Gly86Asp
XR_949903.3:n.355G>A
NM_002180.3:c.257G>A MANE Select	NP_002171.2:p.Gly86Asp