Canonical Allele Identifier: CA381654020
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68937049G>C , CM000673.2:g.68937049G>C GRCh38
NC_000011.9:g.68704517G>C , CM000673.1:g.68704517G>C GRCh37
NC_000011.8:g.68461093G>C NCBI36
NG_007976.1:g.38199G>C , LRG_250:g.38199G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2569G>C MANE Select ENSP00000255078.4:p.Gly857Arg
ENST00000674675.1:c.714G>C
ENST00000674878.1:c.674G>C
ENST00000675118.1:c.2057G>C
ENST00000675389.1:n.844G>C
ENST00000675615.1:c.2569G>C ENSP00000502413.1:p.Gly857Arg
ENST00000675648.1:n.1944G>C
ENST00000675916.1:c.813G>C
ENST00000676173.1:n.3314G>C
ENST00000676182.1:c.1000G>C
ENST00000676228.1:c.*1892G>C ENSP00000502375.1:n.*1892G>C
ENST00000255078.7:c.2569G>C ENSP00000255078.3:p.Gly857Arg
ENST00000539064.5:n.2328G>C
ENST00000543739.5:n.1562G>C
NM_002180.2:c.2569G>C , LRG_250t1:c.2569G>C NP_002171.2:p.Gly857Arg
XM_005273974.2:c.1558G>C XP_005274031.1:p.Gly520Arg
XM_005273975.2:c.1441G>C XP_005274032.1:p.Gly481Arg
XM_011544994.1:c.1336G>C XP_011543296.1:p.Gly446Arg
XR_949903.1:n.2671G>C
XM_005273975.3:c.1441G>C XP_005274032.1:p.Gly481Arg
XM_017017669.2:c.1558G>C XP_016873158.1:p.Gly520Arg
XM_017017670.2:c.1558G>C XP_016873159.1:p.Gly520Arg
XR_949903.3:n.2667G>C
NM_002180.3:c.2569G>C MANE Select NP_002171.2:p.Gly857Arg