Canonical Allele Identifier: CA475279725
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704078C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936610C>T , CM000673.2:g.68936610C>T GRCh38
NC_000011.9:g.68704078C>T , CM000673.1:g.68704078C>T GRCh37
NC_000011.8:g.68460654C>T NCBI36
NG_007976.1:g.37760C>T , LRG_250:g.37760C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2130C>T MANE Select ENSP00000255078.4:p.Pro710=
ENST00000674675.1:c.374C>T
ENST00000674878.1:c.374C>T
ENST00000674955.1:c.*847C>T ENSP00000502463.1:n.*847C>T
ENST00000675118.1:c.1618C>T
ENST00000675389.1:n.405C>T
ENST00000675615.1:c.2130C>T ENSP00000502413.1:p.Pro710=
ENST00000675648.1:n.1505C>T
ENST00000675916.1:c.374C>T
ENST00000676173.1:n.2875C>T
ENST00000676182.1:c.561C>T
ENST00000676228.1:c.*1453C>T ENSP00000502375.1:n.*1453C>T
ENST00000255078.7:c.2130C>T ENSP00000255078.3:p.Pro710=
ENST00000539064.5:n.1889C>T
ENST00000543739.5:n.1123C>T
NM_002180.2:c.2130C>T , LRG_250t1:c.2130C>T NP_002171.2:p.Pro710=
XM_005273974.2:c.1119C>T XP_005274031.1:p.Pro373=
XM_005273975.2:c.1002C>T XP_005274032.1:p.Pro334=
XM_011544994.1:c.897C>T XP_011543296.1:p.Pro299=
XR_949903.1:n.2232C>T
XM_005273975.3:c.1002C>T XP_005274032.1:p.Pro334=
XM_017017669.2:c.1119C>T XP_016873158.1:p.Pro373=
XM_017017670.2:c.1119C>T XP_016873159.1:p.Pro373=
XR_949903.3:n.2228C>T
NM_002180.3:c.2130C>T MANE Select NP_002171.2:p.Pro710=