Canonical Allele Identifier: CA6153452

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 944669
• ClinVar RCV Id: RCV001215120 ; RCV002375182
• dbSNP Id: rs758520241
• ExAC: 11:68685210 A / C
• gnomAD v2: 11-68685210-A-C
• gnomAD v3: 11-68917742-A-C
• gnomAD v4: 11-68917742-A-C
• MyVariant Identifiers: chr11:g.68685210A>C (hg19) ; chr11:g.68917742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68917742A>C , CM000673.2:g.68917742A>C	GRCh38
NC_000011.9:g.68685210A>C , CM000673.1:g.68685210A>C	GRCh37
NC_000011.8:g.68441786A>C	NCBI36
NG_007976.1:g.18892A>C , LRG_250:g.18892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.919A>C MANE Select	ENSP00000255078.4:p.Asn307His
ENST00000539224.2:c.1048A>C
ENST00000674745.1:c.7A>C	ENSP00000502738.1:p.Asn3His
ENST00000674775.1:n.7A>C
ENST00000674955.1:c.919A>C	ENSP00000502463.1:p.Asn307His
ENST00000675118.1:c.407A>C
ENST00000675119.1:c.346A>C	ENSP00000501861.1:n.346A>C
ENST00000675305.1:c.239A>C	ENSP00000502365.1:n.239A>C
ENST00000675464.1:c.202A>C	ENSP00000502650.1:p.Asn68His
ENST00000675493.1:n.7A>C
ENST00000675615.1:c.919A>C	ENSP00000502413.1:p.Asn307His
ENST00000675648.1:n.294A>C
ENST00000675683.1:c.306A>C
ENST00000675684.1:c.7A>C	ENSP00000502192.1:p.Asn3His
ENST00000676173.1:n.963A>C
ENST00000676228.1:c.*242A>C	ENSP00000502375.1:n.*242A>C
ENST00000255078.7:c.919A>C	ENSP00000255078.3:p.Asn307His
NM_002180.2:c.919A>C , LRG_250t1:c.919A>C	NP_002171.2:p.Asn307His
XM_005273974.2:c.-93A>C	XP_005274031.1:n.-93A>C
XM_005273976.1:c.919A>C	XP_005274033.1:p.Asn307His
XR_247198.1:n.1021A>C
XR_949903.1:n.1021A>C
XM_005273976.2:c.919A>C	XP_005274033.1:p.Asn307His
XM_017017669.2:c.-93A>C	XP_016873158.1:n.-93A>C
XM_017017670.2:c.-93A>C	XP_016873159.1:n.-93A>C
XM_017017671.2:c.919A>C	XP_016873160.1:p.Asn307His
XR_949903.3:n.1017A>C
NM_002180.3:c.919A>C MANE Select	NP_002171.2:p.Asn307His