Canonical Allele Identifier: CA381644605
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68915008C>G , CM000673.2:g.68915008C>G GRCh38
NC_000011.9:g.68682476C>G , CM000673.1:g.68682476C>G GRCh37
NC_000011.8:g.68439052C>G NCBI36
NG_007976.1:g.16158C>G , LRG_250:g.16158C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.897C>G MANE Select ENSP00000255078.4:p.Asp299Glu
ENST00000539224.2:c.1026C>G
ENST00000674955.1:c.897C>G ENSP00000502463.1:p.Asp299Glu
ENST00000675118.1:c.244C>G
ENST00000675119.1:c.186C>G ENSP00000501861.1:p.Asp62Glu
ENST00000675305.1:c.186C>G ENSP00000502365.1:p.Asp62Glu
ENST00000675464.1:c.186C>G ENSP00000502650.1:p.Asp62Glu
ENST00000675615.1:c.897C>G ENSP00000502413.1:p.Asp299Glu
ENST00000675683.1:c.284C>G
ENST00000676173.1:n.941C>G
ENST00000676228.1:c.*220C>G ENSP00000502375.1:n.*220C>G
ENST00000676239.1:n.211C>G
ENST00000255078.7:c.897C>G ENSP00000255078.3:p.Asp299Glu
NM_002180.2:c.897C>G , LRG_250t1:c.897C>G NP_002171.2:p.Asp299Glu
XM_005273974.2:c.-115C>G XP_005274031.1:n.-115C>G
XM_005273976.1:c.897C>G XP_005274033.1:p.Asp299Glu
XR_247198.1:n.999C>G
XR_949903.1:n.999C>G
XM_005273976.2:c.897C>G XP_005274033.1:p.Asp299Glu
XM_017017669.2:c.-115C>G XP_016873158.1:n.-115C>G
XM_017017670.2:c.-115C>G XP_016873159.1:n.-115C>G
XM_017017671.2:c.897C>G XP_016873160.1:p.Asp299Glu
XR_949903.3:n.995C>G
NM_002180.3:c.897C>G MANE Select NP_002171.2:p.Asp299Glu