Canonical Allele Identifier: CA381651775
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936346T>A , CM000673.2:g.68936346T>A GRCh38
NC_000011.9:g.68703814T>A , CM000673.1:g.68703814T>A GRCh37
NC_000011.8:g.68460390T>A NCBI36
NG_007976.1:g.37496T>A , LRG_250:g.37496T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1866T>A MANE Select ENSP00000255078.4:p.Phe622Leu
ENST00000674675.1:c.110T>A
ENST00000674878.1:c.110T>A
ENST00000674955.1:c.*583T>A ENSP00000502463.1:n.*583T>A
ENST00000675118.1:c.1354T>A
ENST00000675389.1:n.141T>A
ENST00000675615.1:c.1866T>A ENSP00000502413.1:p.Phe622Leu
ENST00000675648.1:n.1241T>A
ENST00000675916.1:c.110T>A
ENST00000676173.1:n.2611T>A
ENST00000676182.1:c.297T>A
ENST00000676228.1:c.*1189T>A ENSP00000502375.1:n.*1189T>A
ENST00000255078.7:c.1866T>A ENSP00000255078.3:p.Phe622Leu
ENST00000539064.5:n.1625T>A
ENST00000543739.5:n.859T>A
ENST00000545475.1:n.462T>A
NM_002180.2:c.1866T>A , LRG_250t1:c.1866T>A NP_002171.2:p.Phe622Leu
XM_005273974.2:c.855T>A XP_005274031.1:p.Phe285Leu
XM_005273975.2:c.738T>A XP_005274032.1:p.Phe246Leu
XM_011544994.1:c.633T>A XP_011543296.1:p.Phe211Leu
XR_949903.1:n.1968T>A
XM_005273975.3:c.738T>A XP_005274032.1:p.Phe246Leu
XM_017017669.2:c.855T>A XP_016873158.1:p.Phe285Leu
XM_017017670.2:c.855T>A XP_016873159.1:p.Phe285Leu
XR_949903.3:n.1964T>A
NM_002180.3:c.1866T>A MANE Select NP_002171.2:p.Phe622Leu