Canonical Allele Identifier: CA475280890
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704384T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936916T>A , CM000673.2:g.68936916T>A GRCh38
NC_000011.9:g.68704384T>A , CM000673.1:g.68704384T>A GRCh37
NC_000011.8:g.68460960T>A NCBI36
NG_007976.1:g.38066T>A , LRG_250:g.38066T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2436T>A MANE Select ENSP00000255078.4:p.Pro812=
ENST00000674675.1:c.588-7T>A
ENST00000674878.1:c.548-7T>A
ENST00000675118.1:c.1924T>A
ENST00000675389.1:n.711T>A
ENST00000675615.1:c.2436T>A ENSP00000502413.1:p.Pro812=
ENST00000675648.1:n.1811T>A
ENST00000675916.1:c.680T>A
ENST00000676173.1:n.3181T>A
ENST00000676182.1:c.867T>A
ENST00000676228.1:c.*1759T>A ENSP00000502375.1:n.*1759T>A
ENST00000255078.7:c.2436T>A ENSP00000255078.3:p.Pro812=
ENST00000539064.5:n.2195T>A
ENST00000543739.5:n.1429T>A
NM_002180.2:c.2436T>A , LRG_250t1:c.2436T>A NP_002171.2:p.Pro812=
XM_005273974.2:c.1425T>A XP_005274031.1:p.Pro475=
XM_005273975.2:c.1308T>A XP_005274032.1:p.Pro436=
XM_011544994.1:c.1203T>A XP_011543296.1:p.Pro401=
XR_949903.1:n.2538T>A
XM_005273975.3:c.1308T>A XP_005274032.1:p.Pro436=
XM_017017669.2:c.1425T>A XP_016873158.1:p.Pro475=
XM_017017670.2:c.1425T>A XP_016873159.1:p.Pro475=
XR_949903.3:n.2534T>A
NM_002180.3:c.2436T>A MANE Select NP_002171.2:p.Pro812=