Canonical Allele Identifier: CA6153203

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 426960
• ClinVar RCV Id: RCV000489846 ; RCV001083586 ; RCV001173342 ; RCV002222528 ; RCV002404282
• dbSNP Id: rs201692151
• ExAC: 11:68673615 G / C
• gnomAD v2: 11-68673615-G-C
• gnomAD v3: 11-68906147-G-C
• gnomAD v4: 11-68906147-G-C
• MyVariant Identifiers: chr11:g.68673615G>C (hg19) ; chr11:g.68906147G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68906147G>C , CM000673.2:g.68906147G>C	GRCh38
NC_000011.9:g.68673615G>C , CM000673.1:g.68673615G>C	GRCh37
NC_000011.8:g.68430191G>C	NCBI36
NG_007976.1:g.7297G>C , LRG_250:g.7297G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.165G>C MANE Select	ENSP00000255078.4:p.Gln55His
ENST00000539224.2:c.128G>C
ENST00000674583.1:c.128G>C
ENST00000674597.1:c.67+12G>C
ENST00000674729.1:n.108G>C
ENST00000674955.1:c.165G>C	ENSP00000502463.1:p.Gln55His
ENST00000675142.1:n.128G>C
ENST00000675469.1:c.79G>C
ENST00000675615.1:c.165G>C	ENSP00000502413.1:p.Gln55His
ENST00000675674.1:n.128G>C
ENST00000675800.1:n.110G>C
ENST00000675873.1:c.128G>C
ENST00000676173.1:n.205G>C
ENST00000676228.1:c.165G>C	ENSP00000502375.1:p.Gln55His
ENST00000255078.7:c.165G>C	ENSP00000255078.3:p.Gln55His
ENST00000539224.1:c.165G>C	ENSP00000440465.1:p.Gln55His
ENST00000544541.1:c.87-1998G>C	ENSP00000443343.1:n.87-1998G>C
ENST00000545146.1:c.165G>C	ENSP00000456366.1:p.Gln55His
NM_002180.2:c.165G>C , LRG_250t1:c.165G>C	NP_002171.2:p.Gln55His
XM_005273974.2:c.-851G>C	XP_005274031.1:n.-851G>C
XM_005273976.1:c.165G>C	XP_005274033.1:p.Gln55His
XR_247198.1:n.267G>C
XR_949903.1:n.267G>C
XM_005273976.2:c.165G>C	XP_005274033.1:p.Gln55His
XM_017017669.2:c.-749G>C	XP_016873158.1:n.-749G>C
XM_017017671.2:c.165G>C	XP_016873160.1:p.Gln55His
XR_949903.3:n.263G>C
NM_002180.3:c.165G>C MANE Select	NP_002171.2:p.Gln55His