Canonical Allele Identifier: CA475201701
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68701344G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933876G>A , CM000673.2:g.68933876G>A GRCh38
NC_000011.9:g.68701344G>A , CM000673.1:g.68701344G>A GRCh37
NC_000011.8:g.68457920G>A NCBI36
NG_007976.1:g.35026G>A , LRG_250:g.35026G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1500G>A MANE Select ENSP00000255078.4:p.Glu500=
ENST00000674955.1:c.*217G>A ENSP00000502463.1:n.*217G>A
ENST00000675118.1:c.988G>A
ENST00000675205.1:n.183+395G>A
ENST00000675615.1:c.1500G>A ENSP00000502413.1:p.Glu500=
ENST00000675648.1:n.875G>A
ENST00000675997.1:n.113-588G>A
ENST00000676173.1:n.2245G>A
ENST00000676228.1:c.*823G>A ENSP00000502375.1:n.*823G>A
ENST00000255078.7:c.1500G>A ENSP00000255078.3:p.Glu500=
ENST00000537458.5:n.617G>A
ENST00000539064.5:n.1259G>A
ENST00000541229.5:n.195G>A
ENST00000543739.5:n.617G>A
NM_002180.2:c.1500G>A , LRG_250t1:c.1500G>A NP_002171.2:p.Glu500=
XM_005273974.2:c.489G>A XP_005274031.1:p.Glu163=
XM_005273975.2:c.372G>A XP_005274032.1:p.Glu124=
XM_011544994.1:c.267G>A XP_011543296.1:p.Glu89=
XR_949903.1:n.1602G>A
XM_005273975.3:c.372G>A XP_005274032.1:p.Glu124=
XM_017017669.2:c.489G>A XP_016873158.1:p.Glu163=
XM_017017670.2:c.489G>A XP_016873159.1:p.Glu163=
XM_017017671.2:c.1500G>A XP_016873160.1:p.Glu500=
XR_949903.3:n.1598G>A
NM_002180.3:c.1500G>A MANE Select NP_002171.2:p.Glu500=