Canonical Allele Identifier: CA381653678
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936930A>G , CM000673.2:g.68936930A>G GRCh38
NC_000011.9:g.68704398A>G , CM000673.1:g.68704398A>G GRCh37
NC_000011.8:g.68460974A>G NCBI36
NG_007976.1:g.38080A>G , LRG_250:g.38080A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2450A>G MANE Select ENSP00000255078.4:p.Gln817Arg
ENST00000674675.1:c.595A>G
ENST00000674878.1:c.555A>G
ENST00000675118.1:c.1938A>G
ENST00000675389.1:n.725A>G
ENST00000675615.1:c.2450A>G ENSP00000502413.1:p.Gln817Arg
ENST00000675648.1:n.1825A>G
ENST00000675916.1:c.694A>G
ENST00000676173.1:n.3195A>G
ENST00000676182.1:c.881A>G
ENST00000676228.1:c.*1773A>G ENSP00000502375.1:n.*1773A>G
ENST00000255078.7:c.2450A>G ENSP00000255078.3:p.Gln817Arg
ENST00000539064.5:n.2209A>G
ENST00000543739.5:n.1443A>G
NM_002180.2:c.2450A>G , LRG_250t1:c.2450A>G NP_002171.2:p.Gln817Arg
XM_005273974.2:c.1439A>G XP_005274031.1:p.Gln480Arg
XM_005273975.2:c.1322A>G XP_005274032.1:p.Gln441Arg
XM_011544994.1:c.1217A>G XP_011543296.1:p.Gln406Arg
XR_949903.1:n.2552A>G
XM_005273975.3:c.1322A>G XP_005274032.1:p.Gln441Arg
XM_017017669.2:c.1439A>G XP_016873158.1:p.Gln480Arg
XM_017017670.2:c.1439A>G XP_016873159.1:p.Gln480Arg
XR_949903.3:n.2548A>G
NM_002180.3:c.2450A>G MANE Select NP_002171.2:p.Gln817Arg