Canonical Allele Identifier: CA381653329
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936817C>G , CM000673.2:g.68936817C>G GRCh38
NC_000011.9:g.68704285C>G , CM000673.1:g.68704285C>G GRCh37
NC_000011.8:g.68460861C>G NCBI36
NG_007976.1:g.37967C>G , LRG_250:g.37967C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2337C>G MANE Select ENSP00000255078.4:p.Phe779Leu
ENST00000674675.1:c.581C>G
ENST00000674878.1:c.547+34C>G
ENST00000674955.1:c.*1054C>G ENSP00000502463.1:n.*1054C>G
ENST00000675118.1:c.1825C>G
ENST00000675389.1:n.612C>G
ENST00000675615.1:c.2337C>G ENSP00000502413.1:p.Phe779Leu
ENST00000675648.1:n.1712C>G
ENST00000675916.1:c.581C>G
ENST00000676173.1:n.3082C>G
ENST00000676182.1:c.768C>G
ENST00000676228.1:c.*1660C>G ENSP00000502375.1:n.*1660C>G
ENST00000255078.7:c.2337C>G ENSP00000255078.3:p.Phe779Leu
ENST00000539064.5:n.2096C>G
ENST00000543739.5:n.1330C>G
NM_002180.2:c.2337C>G , LRG_250t1:c.2337C>G NP_002171.2:p.Phe779Leu
XM_005273974.2:c.1326C>G XP_005274031.1:p.Phe442Leu
XM_005273975.2:c.1209C>G XP_005274032.1:p.Phe403Leu
XM_011544994.1:c.1104C>G XP_011543296.1:p.Phe368Leu
XR_949903.1:n.2439C>G
XM_005273975.3:c.1209C>G XP_005274032.1:p.Phe403Leu
XM_017017669.2:c.1326C>G XP_016873158.1:p.Phe442Leu
XM_017017670.2:c.1326C>G XP_016873159.1:p.Phe442Leu
XR_949903.3:n.2435C>G
NM_002180.3:c.2337C>G MANE Select NP_002171.2:p.Phe779Leu