Canonical Allele Identifier: CA654376520
Gene: IGHMBP2 HGNC NCBI

Linked Data

COSMIC: COSN214534

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936193C>G , CM000673.2:g.68936193C>G GRCh38
NC_000011.9:g.68703661C>G , CM000673.1:g.68703661C>G GRCh37
NC_000011.8:g.68460237C>G NCBI36
NG_007976.1:g.37343C>G , LRG_250:g.37343C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1757-44C>G MANE Select ENSP00000255078.4:n.1757-44C>G
ENST00000674955.1:c.*474-44C>G ENSP00000502463.1:n.*474-44C>G
ENST00000675118.1:c.1245-44C>G
ENST00000675389.1:n.32-44C>G
ENST00000675615.1:c.1757-44C>G ENSP00000502413.1:n.1757-44C>G
ENST00000675648.1:n.1132-44C>G
ENST00000676173.1:n.2502-44C>G
ENST00000676182.1:c.188-44C>G
ENST00000676228.1:c.*1080-44C>G ENSP00000502375.1:n.*1080-44C>G
ENST00000255078.7:c.1757-44C>G ENSP00000255078.3:n.1757-44C>G
ENST00000539064.5:n.1516-44C>G
ENST00000541229.5:n.452-44C>G
ENST00000543739.5:n.750-44C>G
ENST00000545475.1:n.353-44C>G
NM_002180.2:c.1757-44C>G , LRG_250t1:c.1757-44C>G NP_002171.2:n.1757-44C>G
XM_005273974.2:c.746-44C>G XP_005274031.1:n.746-44C>G
XM_005273975.2:c.629-44C>G XP_005274032.1:n.629-44C>G
XM_011544994.1:c.524-44C>G XP_011543296.1:n.524-44C>G
XR_949903.1:n.1859-44C>G
XM_005273975.3:c.629-44C>G XP_005274032.1:n.629-44C>G
XM_017017669.2:c.746-44C>G XP_016873158.1:n.746-44C>G
XM_017017670.2:c.746-44C>G XP_016873159.1:n.746-44C>G
XR_949903.3:n.1855-44C>G
NM_002180.3:c.1757-44C>G MANE Select NP_002171.2:n.1757-44C>G