Canonical Allele Identifier: CA475197555
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68696712T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68929244T>A , CM000673.2:g.68929244T>A GRCh38
NC_000011.9:g.68696712T>A , CM000673.1:g.68696712T>A GRCh37
NC_000011.8:g.68453288T>A NCBI36
NG_007976.1:g.30394T>A , LRG_250:g.30394T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.1122T>A MANE Select ENSP00000255078.4:p.Ile374=
ENST00000674698.1:n.62T>A
ENST00000674745.1:c.287T>A ENSP00000502738.1:n.287T>A
ENST00000674775.1:n.322T>A
ENST00000674955.1:c.1122T>A ENSP00000502463.1:p.Ile374=
ENST00000675118.1:c.610T>A
ENST00000675305.1:c.442T>A ENSP00000502365.1:n.442T>A
ENST00000675310.1:n.62T>A
ENST00000675493.1:n.283T>A
ENST00000675615.1:c.1122T>A ENSP00000502413.1:p.Ile374=
ENST00000675648.1:n.497T>A
ENST00000675684.1:c.249T>A ENSP00000502192.1:p.Ile83=
ENST00000675755.1:n.62T>A
ENST00000676083.1:n.62T>A
ENST00000676173.1:n.1166T>A
ENST00000676228.1:c.*445T>A ENSP00000502375.1:n.*445T>A
ENST00000676240.1:n.62T>A
ENST00000676400.1:n.62T>A
ENST00000255078.7:c.1122T>A ENSP00000255078.3:p.Ile374=
ENST00000568742.1:n.232T>A
NM_002180.2:c.1122T>A , LRG_250t1:c.1122T>A NP_002171.2:p.Ile374=
XM_005273974.2:c.111T>A XP_005274031.1:p.Ile37=
XM_005273976.1:c.1122T>A XP_005274033.1:p.Ile374=
XR_247198.1:n.1224T>A
XR_949903.1:n.1224T>A
XM_005273976.2:c.1122T>A XP_005274033.1:p.Ile374=
XM_017017669.2:c.111T>A XP_016873158.1:p.Ile37=
XM_017017670.2:c.111T>A XP_016873159.1:p.Ile37=
XM_017017671.2:c.1122T>A XP_016873160.1:p.Ile374=
XR_949903.3:n.1220T>A
NM_002180.3:c.1122T>A MANE Select NP_002171.2:p.Ile374=