Canonical Allele Identifier: CA381653118
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936722C>A , CM000673.2:g.68936722C>A GRCh38
NC_000011.9:g.68704190C>A , CM000673.1:g.68704190C>A GRCh37
NC_000011.8:g.68460766C>A NCBI36
NG_007976.1:g.37872C>A , LRG_250:g.37872C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2242C>A MANE Select ENSP00000255078.4:p.Pro748Thr
ENST00000674675.1:c.486C>A
ENST00000674878.1:c.486C>A
ENST00000674955.1:c.*959C>A ENSP00000502463.1:n.*959C>A
ENST00000675118.1:c.1730C>A
ENST00000675389.1:n.517C>A
ENST00000675615.1:c.2242C>A ENSP00000502413.1:p.Pro748Thr
ENST00000675648.1:n.1617C>A
ENST00000675916.1:c.486C>A
ENST00000676173.1:n.2987C>A
ENST00000676182.1:c.673C>A
ENST00000676228.1:c.*1565C>A ENSP00000502375.1:n.*1565C>A
ENST00000255078.7:c.2242C>A ENSP00000255078.3:p.Pro748Thr
ENST00000539064.5:n.2001C>A
ENST00000543739.5:n.1235C>A
NM_002180.2:c.2242C>A , LRG_250t1:c.2242C>A NP_002171.2:p.Pro748Thr
XM_005273974.2:c.1231C>A XP_005274031.1:p.Pro411Thr
XM_005273975.2:c.1114C>A XP_005274032.1:p.Pro372Thr
XM_011544994.1:c.1009C>A XP_011543296.1:p.Pro337Thr
XR_949903.1:n.2344C>A
XM_005273975.3:c.1114C>A XP_005274032.1:p.Pro372Thr
XM_017017669.2:c.1231C>A XP_016873158.1:p.Pro411Thr
XM_017017670.2:c.1231C>A XP_016873159.1:p.Pro411Thr
XR_949903.3:n.2340C>A
NM_002180.3:c.2242C>A MANE Select NP_002171.2:p.Pro748Thr