Canonical Allele Identifier: CA381653658
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1257825847

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936924C>T , CM000673.2:g.68936924C>T GRCh38
NC_000011.9:g.68704392C>T , CM000673.1:g.68704392C>T GRCh37
NC_000011.8:g.68460968C>T NCBI36
NG_007976.1:g.38074C>T , LRG_250:g.38074C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2444C>T MANE Select ENSP00000255078.4:p.Thr815Ile
ENST00000674675.1:c.589C>T
ENST00000674878.1:c.549C>T
ENST00000675118.1:c.1932C>T
ENST00000675389.1:n.719C>T
ENST00000675615.1:c.2444C>T ENSP00000502413.1:p.Thr815Ile
ENST00000675648.1:n.1819C>T
ENST00000675916.1:c.688C>T
ENST00000676173.1:n.3189C>T
ENST00000676182.1:c.875C>T
ENST00000676228.1:c.*1767C>T ENSP00000502375.1:n.*1767C>T
ENST00000255078.7:c.2444C>T ENSP00000255078.3:p.Thr815Ile
ENST00000539064.5:n.2203C>T
ENST00000543739.5:n.1437C>T
NM_002180.2:c.2444C>T , LRG_250t1:c.2444C>T NP_002171.2:p.Thr815Ile
XM_005273974.2:c.1433C>T XP_005274031.1:p.Thr478Ile
XM_005273975.2:c.1316C>T XP_005274032.1:p.Thr439Ile
XM_011544994.1:c.1211C>T XP_011543296.1:p.Thr404Ile
XR_949903.1:n.2546C>T
XM_005273975.3:c.1316C>T XP_005274032.1:p.Thr439Ile
XM_017017669.2:c.1433C>T XP_016873158.1:p.Thr478Ile
XM_017017670.2:c.1433C>T XP_016873159.1:p.Thr478Ile
XR_949903.3:n.2542C>T
NM_002180.3:c.2444C>T MANE Select NP_002171.2:p.Thr815Ile