Canonical Allele Identifier: CA475200882
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68701281T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933813T>G , CM000673.2:g.68933813T>G GRCh38
NC_000011.9:g.68701281T>G , CM000673.1:g.68701281T>G GRCh37
NC_000011.8:g.68457857T>G NCBI36
NG_007976.1:g.34963T>G , LRG_250:g.34963T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1437T>G MANE Select ENSP00000255078.4:p.Ala479=
ENST00000674955.1:c.*154T>G ENSP00000502463.1:n.*154T>G
ENST00000675118.1:c.925T>G
ENST00000675205.1:n.183+332T>G
ENST00000675615.1:c.1437T>G ENSP00000502413.1:p.Ala479=
ENST00000675648.1:n.812T>G
ENST00000675997.1:n.113-651T>G
ENST00000676173.1:n.2182T>G
ENST00000676228.1:c.*760T>G ENSP00000502375.1:n.*760T>G
ENST00000255078.7:c.1437T>G ENSP00000255078.3:p.Ala479=
ENST00000537458.5:n.554T>G
ENST00000539064.5:n.1196T>G
ENST00000541229.5:n.132T>G
ENST00000543739.5:n.554T>G
NM_002180.2:c.1437T>G , LRG_250t1:c.1437T>G NP_002171.2:p.Ala479=
XM_005273974.2:c.426T>G XP_005274031.1:p.Ala142=
XM_005273975.2:c.309T>G XP_005274032.1:p.Ala103=
XM_011544994.1:c.204T>G XP_011543296.1:p.Ala68=
XR_949903.1:n.1539T>G
XM_005273975.3:c.309T>G XP_005274032.1:p.Ala103=
XM_017017669.2:c.426T>G XP_016873158.1:p.Ala142=
XM_017017670.2:c.426T>G XP_016873159.1:p.Ala142=
XM_017017671.2:c.1437T>G XP_016873160.1:p.Ala479=
XR_949903.3:n.1535T>G
NM_002180.3:c.1437T>G MANE Select NP_002171.2:p.Ala479=