Canonical Allele Identifier: CA475280847
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704336A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936868A>T , CM000673.2:g.68936868A>T GRCh38
NC_000011.9:g.68704336A>T , CM000673.1:g.68704336A>T GRCh37
NC_000011.8:g.68460912A>T NCBI36
NG_007976.1:g.38018A>T , LRG_250:g.38018A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2388A>T MANE Select ENSP00000255078.4:p.Pro796=
ENST00000674675.1:c.587+45A>T
ENST00000674878.1:c.548-55A>T
ENST00000675118.1:c.1876A>T
ENST00000675389.1:n.663A>T
ENST00000675615.1:c.2388A>T ENSP00000502413.1:p.Pro796=
ENST00000675648.1:n.1763A>T
ENST00000675916.1:c.632A>T
ENST00000676173.1:n.3133A>T
ENST00000676182.1:c.819A>T
ENST00000676228.1:c.*1711A>T ENSP00000502375.1:n.*1711A>T
ENST00000255078.7:c.2388A>T ENSP00000255078.3:p.Pro796=
ENST00000539064.5:n.2147A>T
ENST00000543739.5:n.1381A>T
NM_002180.2:c.2388A>T , LRG_250t1:c.2388A>T NP_002171.2:p.Pro796=
XM_005273974.2:c.1377A>T XP_005274031.1:p.Pro459=
XM_005273975.2:c.1260A>T XP_005274032.1:p.Pro420=
XM_011544994.1:c.1155A>T XP_011543296.1:p.Pro385=
XR_949903.1:n.2490A>T
XM_005273975.3:c.1260A>T XP_005274032.1:p.Pro420=
XM_017017669.2:c.1377A>T XP_016873158.1:p.Pro459=
XM_017017670.2:c.1377A>T XP_016873159.1:p.Pro459=
XR_949903.3:n.2486A>T
NM_002180.3:c.2388A>T MANE Select NP_002171.2:p.Pro796=