Canonical Allele Identifier: CA475204542
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704462G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936994G>T , CM000673.2:g.68936994G>T GRCh38
NC_000011.9:g.68704462G>T , CM000673.1:g.68704462G>T GRCh37
NC_000011.8:g.68461038G>T NCBI36
NG_007976.1:g.38144G>T , LRG_250:g.38144G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2514G>T MANE Select ENSP00000255078.4:p.Leu838=
ENST00000674675.1:c.659G>T
ENST00000674878.1:c.619G>T
ENST00000675118.1:c.2002G>T
ENST00000675389.1:n.789G>T
ENST00000675615.1:c.2514G>T ENSP00000502413.1:p.Leu838=
ENST00000675648.1:n.1889G>T
ENST00000675916.1:c.758G>T
ENST00000676173.1:n.3259G>T
ENST00000676182.1:c.945G>T
ENST00000676228.1:c.*1837G>T ENSP00000502375.1:n.*1837G>T
ENST00000255078.7:c.2514G>T ENSP00000255078.3:p.Leu838=
ENST00000539064.5:n.2273G>T
ENST00000543739.5:n.1507G>T
NM_002180.2:c.2514G>T , LRG_250t1:c.2514G>T NP_002171.2:p.Leu838=
XM_005273974.2:c.1503G>T XP_005274031.1:p.Leu501=
XM_005273975.2:c.1386G>T XP_005274032.1:p.Leu462=
XM_011544994.1:c.1281G>T XP_011543296.1:p.Leu427=
XR_949903.1:n.2616G>T
XM_005273975.3:c.1386G>T XP_005274032.1:p.Leu462=
XM_017017669.2:c.1503G>T XP_016873158.1:p.Leu501=
XM_017017670.2:c.1503G>T XP_016873159.1:p.Leu501=
XR_949903.3:n.2612G>T
NM_002180.3:c.2514G>T MANE Select NP_002171.2:p.Leu838=