Canonical Allele Identifier: CA6153970

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 389709
• ClinVar RCV Id: RCV001172583 ; RCV000761791 ; RCV001488391 ; RCV002451034
• dbSNP Id: rs373001247
• ExAC: 11:68705657 G / A
• gnomAD v2: 11-68705657-G-A
• gnomAD v3: 11-68938189-G-A
• gnomAD v4: 11-68938189-G-A
• MyVariant Identifiers: chr11:g.68705657G>A (hg19) ; chr11:g.68938189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68938189G>A , CM000673.2:g.68938189G>A	GRCh38
NC_000011.9:g.68705657G>A , CM000673.1:g.68705657G>A	GRCh37
NC_000011.8:g.68462233G>A	NCBI36
NG_007976.1:g.39339G>A , LRG_250:g.39339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2619G>A MANE Select	ENSP00000255078.4:p.Pro873=
ENST00000674675.1:c.764G>A
ENST00000674878.1:c.724G>A
ENST00000675118.1:c.2107G>A
ENST00000675615.1:c.2611+1098G>A	ENSP00000502413.1:n.2611+1098G>A
ENST00000675648.1:n.1994G>A
ENST00000675916.1:c.863G>A
ENST00000676173.1:n.3364G>A
ENST00000255078.7:c.2619G>A	ENSP00000255078.3:p.Pro873=
ENST00000543739.5:n.1612G>A
ENST00000544521.1:n.450G>A
NM_002180.2:c.2619G>A , LRG_250t1:c.2619G>A	NP_002171.2:p.Pro873=
XM_005273974.2:c.1608G>A	XP_005274031.1:p.Pro536=
XM_005273975.2:c.1491G>A	XP_005274032.1:p.Pro497=
XM_011544994.1:c.1386G>A	XP_011543296.1:p.Pro462=
XR_949903.1:n.2721G>A
XM_005273975.3:c.1491G>A	XP_005274032.1:p.Pro497=
XM_017017669.2:c.1608G>A	XP_016873158.1:p.Pro536=
XM_017017670.2:c.1608G>A	XP_016873159.1:p.Pro536=
XR_949903.3:n.2717G>A
NM_002180.3:c.2619G>A MANE Select	NP_002171.2:p.Pro873=