Canonical Allele Identifier: CA381643521
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908586G>T , CM000673.2:g.68908586G>T GRCh38
NC_000011.9:g.68676054G>T , CM000673.1:g.68676054G>T GRCh37
NC_000011.8:g.68432630G>T NCBI36
NG_007976.1:g.9736G>T , LRG_250:g.9736G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.502G>T MANE Select ENSP00000255078.4:p.Glu168Ter
ENST00000539224.2:c.465G>T
ENST00000674583.1:c.465G>T
ENST00000674597.1:c.313G>T
ENST00000674955.1:c.502G>T ENSP00000502463.1:p.Glu168Ter
ENST00000675142.1:n.465G>T
ENST00000675469.1:c.378G>T
ENST00000675615.1:c.502G>T ENSP00000502413.1:p.Glu168Ter
ENST00000675674.1:n.465G>T
ENST00000675683.1:c.53G>T
ENST00000675873.1:c.465G>T
ENST00000676173.1:n.546G>T
ENST00000676228.1:c.449+249G>T ENSP00000502375.1:n.449+249G>T
ENST00000255078.7:c.502G>T ENSP00000255078.3:p.Glu168Ter
ENST00000539224.1:c.449+249G>T ENSP00000440465.1:n.449+249G>T
ENST00000544541.1:c.*242G>T ENSP00000443343.1:n.*242G>T
NM_002180.2:c.502G>T , LRG_250t1:c.502G>T NP_002171.2:p.Glu168Ter
XM_005273974.2:c.-510G>T XP_005274031.1:n.-510G>T
XM_005273976.1:c.502G>T XP_005274033.1:p.Glu168Ter
XR_247198.1:n.604G>T
XR_949903.1:n.604G>T
XM_005273976.2:c.502G>T XP_005274033.1:p.Glu168Ter
XM_017017669.2:c.-465+249G>T XP_016873158.1:n.-465+249G>T
XM_017017671.2:c.502G>T XP_016873160.1:p.Glu168Ter
XR_949903.3:n.600G>T
NM_002180.3:c.502G>T MANE Select NP_002171.2:p.Glu168Ter