Canonical Allele Identifier: CA381652059
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936417T>A , CM000673.2:g.68936417T>A GRCh38
NC_000011.9:g.68703885T>A , CM000673.1:g.68703885T>A GRCh37
NC_000011.8:g.68460461T>A NCBI36
NG_007976.1:g.37567T>A , LRG_250:g.37567T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1937T>A MANE Select ENSP00000255078.4:p.Ile646Asn
ENST00000674675.1:c.181T>A
ENST00000674878.1:c.181T>A
ENST00000674955.1:c.*654T>A ENSP00000502463.1:n.*654T>A
ENST00000675118.1:c.1425T>A
ENST00000675389.1:n.212T>A
ENST00000675615.1:c.1937T>A ENSP00000502413.1:p.Ile646Asn
ENST00000675648.1:n.1312T>A
ENST00000675916.1:c.181T>A
ENST00000676173.1:n.2682T>A
ENST00000676182.1:c.368T>A
ENST00000676228.1:c.*1260T>A ENSP00000502375.1:n.*1260T>A
ENST00000255078.7:c.1937T>A ENSP00000255078.3:p.Ile646Asn
ENST00000539064.5:n.1696T>A
ENST00000543739.5:n.930T>A
ENST00000545475.1:n.533T>A
NM_002180.2:c.1937T>A , LRG_250t1:c.1937T>A NP_002171.2:p.Ile646Asn
XM_005273974.2:c.926T>A XP_005274031.1:p.Ile309Asn
XM_005273975.2:c.809T>A XP_005274032.1:p.Ile270Asn
XM_011544994.1:c.704T>A XP_011543296.1:p.Ile235Asn
XR_949903.1:n.2039T>A
XM_005273975.3:c.809T>A XP_005274032.1:p.Ile270Asn
XM_017017669.2:c.926T>A XP_016873158.1:p.Ile309Asn
XM_017017670.2:c.926T>A XP_016873159.1:p.Ile309Asn
XR_949903.3:n.2035T>A
NM_002180.3:c.1937T>A MANE Select NP_002171.2:p.Ile646Asn