Canonical Allele Identifier: CA381653056
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936698A>G , CM000673.2:g.68936698A>G GRCh38
NC_000011.9:g.68704166A>G , CM000673.1:g.68704166A>G GRCh37
NC_000011.8:g.68460742A>G NCBI36
NG_007976.1:g.37848A>G , LRG_250:g.37848A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2218A>G MANE Select ENSP00000255078.4:p.Lys740Glu
ENST00000674675.1:c.462A>G
ENST00000674878.1:c.462A>G
ENST00000674955.1:c.*935A>G ENSP00000502463.1:n.*935A>G
ENST00000675118.1:c.1706A>G
ENST00000675389.1:n.493A>G
ENST00000675615.1:c.2218A>G ENSP00000502413.1:p.Lys740Glu
ENST00000675648.1:n.1593A>G
ENST00000675916.1:c.462A>G
ENST00000676173.1:n.2963A>G
ENST00000676182.1:c.649A>G
ENST00000676228.1:c.*1541A>G ENSP00000502375.1:n.*1541A>G
ENST00000255078.7:c.2218A>G ENSP00000255078.3:p.Lys740Glu
ENST00000539064.5:n.1977A>G
ENST00000543739.5:n.1211A>G
NM_002180.2:c.2218A>G , LRG_250t1:c.2218A>G NP_002171.2:p.Lys740Glu
XM_005273974.2:c.1207A>G XP_005274031.1:p.Lys403Glu
XM_005273975.2:c.1090A>G XP_005274032.1:p.Lys364Glu
XM_011544994.1:c.985A>G XP_011543296.1:p.Lys329Glu
XR_949903.1:n.2320A>G
XM_005273975.3:c.1090A>G XP_005274032.1:p.Lys364Glu
XM_017017669.2:c.1207A>G XP_016873158.1:p.Lys403Glu
XM_017017670.2:c.1207A>G XP_016873159.1:p.Lys403Glu
XR_949903.3:n.2316A>G
NM_002180.3:c.2218A>G MANE Select NP_002171.2:p.Lys740Glu