Canonical Allele Identifier: CA381653764
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936966A>G , CM000673.2:g.68936966A>G GRCh38
NC_000011.9:g.68704434A>G , CM000673.1:g.68704434A>G GRCh37
NC_000011.8:g.68461010A>G NCBI36
NG_007976.1:g.38116A>G , LRG_250:g.38116A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2486A>G MANE Select ENSP00000255078.4:p.Asp829Gly
ENST00000674675.1:c.631A>G
ENST00000674878.1:c.591A>G
ENST00000675118.1:c.1974A>G
ENST00000675389.1:n.761A>G
ENST00000675615.1:c.2486A>G ENSP00000502413.1:p.Asp829Gly
ENST00000675648.1:n.1861A>G
ENST00000675916.1:c.730A>G
ENST00000676173.1:n.3231A>G
ENST00000676182.1:c.917A>G
ENST00000676228.1:c.*1809A>G ENSP00000502375.1:n.*1809A>G
ENST00000255078.7:c.2486A>G ENSP00000255078.3:p.Asp829Gly
ENST00000539064.5:n.2245A>G
ENST00000543739.5:n.1479A>G
NM_002180.2:c.2486A>G , LRG_250t1:c.2486A>G NP_002171.2:p.Asp829Gly
XM_005273974.2:c.1475A>G XP_005274031.1:p.Asp492Gly
XM_005273975.2:c.1358A>G XP_005274032.1:p.Asp453Gly
XM_011544994.1:c.1253A>G XP_011543296.1:p.Asp418Gly
XR_949903.1:n.2588A>G
XM_005273975.3:c.1358A>G XP_005274032.1:p.Asp453Gly
XM_017017669.2:c.1475A>G XP_016873158.1:p.Asp492Gly
XM_017017670.2:c.1475A>G XP_016873159.1:p.Asp492Gly
XR_949903.3:n.2584A>G
NM_002180.3:c.2486A>G MANE Select NP_002171.2:p.Asp829Gly