Canonical Allele Identifier: CA6153979
Community Standard Title: NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68938237C>T , CM000673.2:g.68938237C>T GRCh38
NC_000011.9:g.68705705C>T , CM000673.1:g.68705705C>T GRCh37
NC_000011.8:g.68462281C>T NCBI36
NG_007976.1:g.39387C>T , LRG_250:g.39387C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.2667C>T MANE Select NP_002171.2:p.Ala889=
ENST00000255078.8:c.2667C>T MANE Select ENSP00000255078.4:p.Ala889=
NM_002180.2:c.2667C>T , LRG_250t1:c.2667C>T NP_002171.2:p.Ala889=
ENST00000255078.7:c.2667C>T ENSP00000255078.3:p.Ala889=
ENST00000543739.5:n.1660C>T
ENST00000544521.1:n.498C>T
ENST00000674675.1:c.812C>T
ENST00000674878.1:c.772C>T
ENST00000675118.1:c.2155C>T
ENST00000675615.1:c.2611+1146C>T ENSP00000502413.1:n.2611+1146C>T
ENST00000675648.1:n.2042C>T
ENST00000675916.1:c.911C>T
ENST00000676173.1:n.3412C>T
XM_005273974.2:c.1656C>T XP_005274031.1:p.Ala552=
XM_005273975.2:c.1539C>T XP_005274032.1:p.Ala513=
XM_005273975.3:c.1539C>T XP_005274032.1:p.Ala513=
XM_011544994.1:c.1434C>T XP_011543296.1:p.Ala478=
XM_017017669.2:c.1656C>T XP_016873158.1:p.Ala552=
XM_017017670.2:c.1656C>T XP_016873159.1:p.Ala552=
XR_949903.1:n.2769C>T
XR_949903.3:n.2765C>T