Canonical Allele Identifier: CA381652779
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936566A>G , CM000673.2:g.68936566A>G GRCh38
NC_000011.9:g.68704034A>G , CM000673.1:g.68704034A>G GRCh37
NC_000011.8:g.68460610A>G NCBI36
NG_007976.1:g.37716A>G , LRG_250:g.37716A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2086A>G MANE Select ENSP00000255078.4:p.Lys696Glu
ENST00000674675.1:c.330A>G
ENST00000674878.1:c.330A>G
ENST00000674955.1:c.*803A>G ENSP00000502463.1:n.*803A>G
ENST00000675118.1:c.1574A>G
ENST00000675389.1:n.361A>G
ENST00000675615.1:c.2086A>G ENSP00000502413.1:p.Lys696Glu
ENST00000675648.1:n.1461A>G
ENST00000675916.1:c.330A>G
ENST00000676173.1:n.2831A>G
ENST00000676182.1:c.517A>G
ENST00000676228.1:c.*1409A>G ENSP00000502375.1:n.*1409A>G
ENST00000255078.7:c.2086A>G ENSP00000255078.3:p.Lys696Glu
ENST00000539064.5:n.1845A>G
ENST00000543739.5:n.1079A>G
NM_002180.2:c.2086A>G , LRG_250t1:c.2086A>G NP_002171.2:p.Lys696Glu
XM_005273974.2:c.1075A>G XP_005274031.1:p.Lys359Glu
XM_005273975.2:c.958A>G XP_005274032.1:p.Lys320Glu
XM_011544994.1:c.853A>G XP_011543296.1:p.Lys285Glu
XR_949903.1:n.2188A>G
XM_005273975.3:c.958A>G XP_005274032.1:p.Lys320Glu
XM_017017669.2:c.1075A>G XP_016873158.1:p.Lys359Glu
XM_017017670.2:c.1075A>G XP_016873159.1:p.Lys359Glu
XR_949903.3:n.2184A>G
NM_002180.3:c.2086A>G MANE Select NP_002171.2:p.Lys696Glu