Canonical Allele Identifier: CA381653079
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936706G>T , CM000673.2:g.68936706G>T GRCh38
NC_000011.9:g.68704174G>T , CM000673.1:g.68704174G>T GRCh37
NC_000011.8:g.68460750G>T NCBI36
NG_007976.1:g.37856G>T , LRG_250:g.37856G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2226G>T MANE Select ENSP00000255078.4:p.Met742Ile
ENST00000674675.1:c.470G>T
ENST00000674878.1:c.470G>T
ENST00000674955.1:c.*943G>T ENSP00000502463.1:n.*943G>T
ENST00000675118.1:c.1714G>T
ENST00000675389.1:n.501G>T
ENST00000675615.1:c.2226G>T ENSP00000502413.1:p.Met742Ile
ENST00000675648.1:n.1601G>T
ENST00000675916.1:c.470G>T
ENST00000676173.1:n.2971G>T
ENST00000676182.1:c.657G>T
ENST00000676228.1:c.*1549G>T ENSP00000502375.1:n.*1549G>T
ENST00000255078.7:c.2226G>T ENSP00000255078.3:p.Met742Ile
ENST00000539064.5:n.1985G>T
ENST00000543739.5:n.1219G>T
NM_002180.2:c.2226G>T , LRG_250t1:c.2226G>T NP_002171.2:p.Met742Ile
XM_005273974.2:c.1215G>T XP_005274031.1:p.Met405Ile
XM_005273975.2:c.1098G>T XP_005274032.1:p.Met366Ile
XM_011544994.1:c.993G>T XP_011543296.1:p.Met331Ile
XR_949903.1:n.2328G>T
XM_005273975.3:c.1098G>T XP_005274032.1:p.Met366Ile
XM_017017669.2:c.1215G>T XP_016873158.1:p.Met405Ile
XM_017017670.2:c.1215G>T XP_016873159.1:p.Met405Ile
XR_949903.3:n.2324G>T
NM_002180.3:c.2226G>T MANE Select NP_002171.2:p.Met742Ile