Canonical Allele Identifier: CA381642356
Community Standard Title: NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68906145C>T , CM000673.2:g.68906145C>T GRCh38
NC_000011.9:g.68673613C>T , CM000673.1:g.68673613C>T GRCh37
NC_000011.8:g.68430189C>T NCBI36
NG_007976.1:g.7295C>T , LRG_250:g.7295C>T

Transcript Alleles

HGVS Amino-acid Change
NM_002180.3:c.163C>T MANE Select NP_002171.2:p.Gln55Ter
ENST00000255078.8:c.163C>T MANE Select ENSP00000255078.4:p.Gln55Ter
NM_002180.2:c.163C>T , LRG_250t1:c.163C>T NP_002171.2:p.Gln55Ter
ENST00000255078.7:c.163C>T ENSP00000255078.3:p.Gln55Ter
ENST00000539224.1:c.163C>T ENSP00000440465.1:p.Gln55Ter
ENST00000539224.2:c.126C>T
ENST00000544541.1:c.87-2000C>T ENSP00000443343.1:n.87-2000C>T
ENST00000545146.1:c.163C>T ENSP00000456366.1:p.Gln55Ter
ENST00000674583.1:c.126C>T
ENST00000674597.1:c.67+10C>T
ENST00000674729.1:n.106C>T
ENST00000674955.1:c.163C>T ENSP00000502463.1:p.Gln55Ter
ENST00000675142.1:n.126C>T
ENST00000675469.1:c.77C>T
ENST00000675615.1:c.163C>T ENSP00000502413.1:p.Gln55Ter
ENST00000675674.1:n.126C>T
ENST00000675800.1:n.108C>T
ENST00000675873.1:c.126C>T
ENST00000676173.1:n.203C>T
ENST00000676228.1:c.163C>T ENSP00000502375.1:p.Gln55Ter
XM_005273974.2:c.-853C>T XP_005274031.1:n.-853C>T
XM_005273976.1:c.163C>T XP_005274033.1:p.Gln55Ter
XM_005273976.2:c.163C>T XP_005274033.1:p.Gln55Ter
XM_017017669.2:c.-751C>T XP_016873158.1:n.-751C>T
XM_017017671.2:c.163C>T XP_016873160.1:p.Gln55Ter
XR_247198.1:n.265C>T
XR_949903.1:n.265C>T
XR_949903.3:n.261C>T