Canonical Allele Identifier: CA381652054
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936415T>A , CM000673.2:g.68936415T>A GRCh38
NC_000011.9:g.68703883T>A , CM000673.1:g.68703883T>A GRCh37
NC_000011.8:g.68460459T>A NCBI36
NG_007976.1:g.37565T>A , LRG_250:g.37565T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.1935T>A MANE Select ENSP00000255078.4:p.Asp645Glu
ENST00000674675.1:c.179T>A
ENST00000674878.1:c.179T>A
ENST00000674955.1:c.*652T>A ENSP00000502463.1:n.*652T>A
ENST00000675118.1:c.1423T>A
ENST00000675389.1:n.210T>A
ENST00000675615.1:c.1935T>A ENSP00000502413.1:p.Asp645Glu
ENST00000675648.1:n.1310T>A
ENST00000675916.1:c.179T>A
ENST00000676173.1:n.2680T>A
ENST00000676182.1:c.366T>A
ENST00000676228.1:c.*1258T>A ENSP00000502375.1:n.*1258T>A
ENST00000255078.7:c.1935T>A ENSP00000255078.3:p.Asp645Glu
ENST00000539064.5:n.1694T>A
ENST00000543739.5:n.928T>A
ENST00000545475.1:n.531T>A
NM_002180.2:c.1935T>A , LRG_250t1:c.1935T>A NP_002171.2:p.Asp645Glu
XM_005273974.2:c.924T>A XP_005274031.1:p.Asp308Glu
XM_005273975.2:c.807T>A XP_005274032.1:p.Asp269Glu
XM_011544994.1:c.702T>A XP_011543296.1:p.Asp234Glu
XR_949903.1:n.2037T>A
XM_005273975.3:c.807T>A XP_005274032.1:p.Asp269Glu
XM_017017669.2:c.924T>A XP_016873158.1:p.Asp308Glu
XM_017017670.2:c.924T>A XP_016873159.1:p.Asp308Glu
XR_949903.3:n.2033T>A
NM_002180.3:c.1935T>A MANE Select NP_002171.2:p.Asp645Glu