Canonical Allele Identifier: CA381653108
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936717T>G , CM000673.2:g.68936717T>G GRCh38
NC_000011.9:g.68704185T>G , CM000673.1:g.68704185T>G GRCh37
NC_000011.8:g.68460761T>G NCBI36
NG_007976.1:g.37867T>G , LRG_250:g.37867T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2237T>G MANE Select ENSP00000255078.4:p.Phe746Cys
ENST00000674675.1:c.481T>G
ENST00000674878.1:c.481T>G
ENST00000674955.1:c.*954T>G ENSP00000502463.1:n.*954T>G
ENST00000675118.1:c.1725T>G
ENST00000675389.1:n.512T>G
ENST00000675615.1:c.2237T>G ENSP00000502413.1:p.Phe746Cys
ENST00000675648.1:n.1612T>G
ENST00000675916.1:c.481T>G
ENST00000676173.1:n.2982T>G
ENST00000676182.1:c.668T>G
ENST00000676228.1:c.*1560T>G ENSP00000502375.1:n.*1560T>G
ENST00000255078.7:c.2237T>G ENSP00000255078.3:p.Phe746Cys
ENST00000539064.5:n.1996T>G
ENST00000543739.5:n.1230T>G
NM_002180.2:c.2237T>G , LRG_250t1:c.2237T>G NP_002171.2:p.Phe746Cys
XM_005273974.2:c.1226T>G XP_005274031.1:p.Phe409Cys
XM_005273975.2:c.1109T>G XP_005274032.1:p.Phe370Cys
XM_011544994.1:c.1004T>G XP_011543296.1:p.Phe335Cys
XR_949903.1:n.2339T>G
XM_005273975.3:c.1109T>G XP_005274032.1:p.Phe370Cys
XM_017017669.2:c.1226T>G XP_016873158.1:p.Phe409Cys
XM_017017670.2:c.1226T>G XP_016873159.1:p.Phe409Cys
XR_949903.3:n.2335T>G
NM_002180.3:c.2237T>G MANE Select NP_002171.2:p.Phe746Cys