Canonical Allele Identifier: CA6153970
Gene: IGHMBP2 HGNC NCBI
COSMIC:
COSM4574743 (not active)
MyVariant.info:
GRCh38 chr11:g.68938189G>A
GRCh37 chr11:g.68705657G>A
gnomAD v2:
11:68705657 G / A
gnomAD v3:
11:68938189 G / A
gnomAD v4:
chr11-68938189-G-A
Joint Max Group AF 0.00001107 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.0000081 (NFE)
JSON-LD

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=
Search 100 bp 5'
Search 100 bp 3'