Canonical Allele Identifier: CA475280871
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704363C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936895C>A , CM000673.2:g.68936895C>A GRCh38
NC_000011.9:g.68704363C>A , CM000673.1:g.68704363C>A GRCh37
NC_000011.8:g.68460939C>A NCBI36
NG_007976.1:g.38045C>A , LRG_250:g.38045C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2415C>A MANE Select ENSP00000255078.4:p.Leu805=
ENST00000674675.1:c.588-28C>A
ENST00000674878.1:c.548-28C>A
ENST00000675118.1:c.1903C>A
ENST00000675389.1:n.690C>A
ENST00000675615.1:c.2415C>A ENSP00000502413.1:p.Leu805=
ENST00000675648.1:n.1790C>A
ENST00000675916.1:c.659C>A
ENST00000676173.1:n.3160C>A
ENST00000676182.1:c.846C>A
ENST00000676228.1:c.*1738C>A ENSP00000502375.1:n.*1738C>A
ENST00000255078.7:c.2415C>A ENSP00000255078.3:p.Leu805=
ENST00000539064.5:n.2174C>A
ENST00000543739.5:n.1408C>A
NM_002180.2:c.2415C>A , LRG_250t1:c.2415C>A NP_002171.2:p.Leu805=
XM_005273974.2:c.1404C>A XP_005274031.1:p.Leu468=
XM_005273975.2:c.1287C>A XP_005274032.1:p.Leu429=
XM_011544994.1:c.1182C>A XP_011543296.1:p.Leu394=
XR_949903.1:n.2517C>A
XM_005273975.3:c.1287C>A XP_005274032.1:p.Leu429=
XM_017017669.2:c.1404C>A XP_016873158.1:p.Leu468=
XM_017017670.2:c.1404C>A XP_016873159.1:p.Leu468=
XR_949903.3:n.2513C>A
NM_002180.3:c.2415C>A MANE Select NP_002171.2:p.Leu805=