Canonical Allele Identifier: CA381653746
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936959C>T , CM000673.2:g.68936959C>T GRCh38
NC_000011.9:g.68704427C>T , CM000673.1:g.68704427C>T GRCh37
NC_000011.8:g.68461003C>T NCBI36
NG_007976.1:g.38109C>T , LRG_250:g.38109C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2479C>T MANE Select ENSP00000255078.4:p.Gln827Ter
ENST00000674675.1:c.624C>T
ENST00000674878.1:c.584C>T
ENST00000675118.1:c.1967C>T
ENST00000675389.1:n.754C>T
ENST00000675615.1:c.2479C>T ENSP00000502413.1:p.Gln827Ter
ENST00000675648.1:n.1854C>T
ENST00000675916.1:c.723C>T
ENST00000676173.1:n.3224C>T
ENST00000676182.1:c.910C>T
ENST00000676228.1:c.*1802C>T ENSP00000502375.1:n.*1802C>T
ENST00000255078.7:c.2479C>T ENSP00000255078.3:p.Gln827Ter
ENST00000539064.5:n.2238C>T
ENST00000543739.5:n.1472C>T
NM_002180.2:c.2479C>T , LRG_250t1:c.2479C>T NP_002171.2:p.Gln827Ter
XM_005273974.2:c.1468C>T XP_005274031.1:p.Gln490Ter
XM_005273975.2:c.1351C>T XP_005274032.1:p.Gln451Ter
XM_011544994.1:c.1246C>T XP_011543296.1:p.Gln416Ter
XR_949903.1:n.2581C>T
XM_005273975.3:c.1351C>T XP_005274032.1:p.Gln451Ter
XM_017017669.2:c.1468C>T XP_016873158.1:p.Gln490Ter
XM_017017670.2:c.1468C>T XP_016873159.1:p.Gln490Ter
XR_949903.3:n.2577C>T
NM_002180.3:c.2479C>T MANE Select NP_002171.2:p.Gln827Ter