Canonical Allele Identifier: CA475200917
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68701287A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933819A>T , CM000673.2:g.68933819A>T GRCh38
NC_000011.9:g.68701287A>T , CM000673.1:g.68701287A>T GRCh37
NC_000011.8:g.68457863A>T NCBI36
NG_007976.1:g.34969A>T , LRG_250:g.34969A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1443A>T MANE Select ENSP00000255078.4:p.Thr481=
ENST00000674955.1:c.*160A>T ENSP00000502463.1:n.*160A>T
ENST00000675118.1:c.931A>T
ENST00000675205.1:n.183+338A>T
ENST00000675615.1:c.1443A>T ENSP00000502413.1:p.Thr481=
ENST00000675648.1:n.818A>T
ENST00000675997.1:n.113-645A>T
ENST00000676173.1:n.2188A>T
ENST00000676228.1:c.*766A>T ENSP00000502375.1:n.*766A>T
ENST00000255078.7:c.1443A>T ENSP00000255078.3:p.Thr481=
ENST00000537458.5:n.560A>T
ENST00000539064.5:n.1202A>T
ENST00000541229.5:n.138A>T
ENST00000543739.5:n.560A>T
NM_002180.2:c.1443A>T , LRG_250t1:c.1443A>T NP_002171.2:p.Thr481=
XM_005273974.2:c.432A>T XP_005274031.1:p.Thr144=
XM_005273975.2:c.315A>T XP_005274032.1:p.Thr105=
XM_011544994.1:c.210A>T XP_011543296.1:p.Thr70=
XR_949903.1:n.1545A>T
XM_005273975.3:c.315A>T XP_005274032.1:p.Thr105=
XM_017017669.2:c.432A>T XP_016873158.1:p.Thr144=
XM_017017670.2:c.432A>T XP_016873159.1:p.Thr144=
XM_017017671.2:c.1443A>T XP_016873160.1:p.Thr481=
XR_949903.3:n.1541A>T
NM_002180.3:c.1443A>T MANE Select NP_002171.2:p.Thr481=