Canonical Allele Identifier: CA381653979
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68937038A>C , CM000673.2:g.68937038A>C GRCh38
NC_000011.9:g.68704506A>C , CM000673.1:g.68704506A>C GRCh37
NC_000011.8:g.68461082A>C NCBI36
NG_007976.1:g.38188A>C , LRG_250:g.38188A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2558A>C MANE Select ENSP00000255078.4:p.Gln853Pro
ENST00000674675.1:c.703A>C
ENST00000674878.1:c.663A>C
ENST00000675118.1:c.2046A>C
ENST00000675389.1:n.833A>C
ENST00000675615.1:c.2558A>C ENSP00000502413.1:p.Gln853Pro
ENST00000675648.1:n.1933A>C
ENST00000675916.1:c.802A>C
ENST00000676173.1:n.3303A>C
ENST00000676182.1:c.989A>C
ENST00000676228.1:c.*1881A>C ENSP00000502375.1:n.*1881A>C
ENST00000255078.7:c.2558A>C ENSP00000255078.3:p.Gln853Pro
ENST00000539064.5:n.2317A>C
ENST00000543739.5:n.1551A>C
NM_002180.2:c.2558A>C , LRG_250t1:c.2558A>C NP_002171.2:p.Gln853Pro
XM_005273974.2:c.1547A>C XP_005274031.1:p.Gln516Pro
XM_005273975.2:c.1430A>C XP_005274032.1:p.Gln477Pro
XM_011544994.1:c.1325A>C XP_011543296.1:p.Gln442Pro
XR_949903.1:n.2660A>C
XM_005273975.3:c.1430A>C XP_005274032.1:p.Gln477Pro
XM_017017669.2:c.1547A>C XP_016873158.1:p.Gln516Pro
XM_017017670.2:c.1547A>C XP_016873159.1:p.Gln516Pro
XR_949903.3:n.2656A>C
NM_002180.3:c.2558A>C MANE Select NP_002171.2:p.Gln853Pro