Canonical Allele Identifier: CA475201004
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68701302G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933834G>A , CM000673.2:g.68933834G>A GRCh38
NC_000011.9:g.68701302G>A , CM000673.1:g.68701302G>A GRCh37
NC_000011.8:g.68457878G>A NCBI36
NG_007976.1:g.34984G>A , LRG_250:g.34984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1458G>A MANE Select ENSP00000255078.4:p.Val486=
ENST00000674955.1:c.*175G>A ENSP00000502463.1:n.*175G>A
ENST00000675118.1:c.946G>A
ENST00000675205.1:n.183+353G>A
ENST00000675615.1:c.1458G>A ENSP00000502413.1:p.Val486=
ENST00000675648.1:n.833G>A
ENST00000675997.1:n.113-630G>A
ENST00000676173.1:n.2203G>A
ENST00000676228.1:c.*781G>A ENSP00000502375.1:n.*781G>A
ENST00000255078.7:c.1458G>A ENSP00000255078.3:p.Val486=
ENST00000537458.5:n.575G>A
ENST00000539064.5:n.1217G>A
ENST00000541229.5:n.153G>A
ENST00000543739.5:n.575G>A
NM_002180.2:c.1458G>A , LRG_250t1:c.1458G>A NP_002171.2:p.Val486=
XM_005273974.2:c.447G>A XP_005274031.1:p.Val149=
XM_005273975.2:c.330G>A XP_005274032.1:p.Val110=
XM_011544994.1:c.225G>A XP_011543296.1:p.Val75=
XR_949903.1:n.1560G>A
XM_005273975.3:c.330G>A XP_005274032.1:p.Val110=
XM_017017669.2:c.447G>A XP_016873158.1:p.Val149=
XM_017017670.2:c.447G>A XP_016873159.1:p.Val149=
XM_017017671.2:c.1458G>A XP_016873160.1:p.Val486=
XR_949903.3:n.1556G>A
NM_002180.3:c.1458G>A MANE Select NP_002171.2:p.Val486=