Canonical Allele Identifier: CA381652739
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs2154008861

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936546C>G , CM000673.2:g.68936546C>G GRCh38
NC_000011.9:g.68704014C>G , CM000673.1:g.68704014C>G GRCh37
NC_000011.8:g.68460590C>G NCBI36
NG_007976.1:g.37696C>G , LRG_250:g.37696C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2066C>G MANE Select ENSP00000255078.4:p.Pro689Arg
ENST00000674675.1:c.310C>G
ENST00000674878.1:c.310C>G
ENST00000674955.1:c.*783C>G ENSP00000502463.1:n.*783C>G
ENST00000675118.1:c.1554C>G
ENST00000675389.1:n.341C>G
ENST00000675615.1:c.2066C>G ENSP00000502413.1:p.Pro689Arg
ENST00000675648.1:n.1441C>G
ENST00000675916.1:c.310C>G
ENST00000676173.1:n.2811C>G
ENST00000676182.1:c.497C>G
ENST00000676228.1:c.*1389C>G ENSP00000502375.1:n.*1389C>G
ENST00000255078.7:c.2066C>G ENSP00000255078.3:p.Pro689Arg
ENST00000539064.5:n.1825C>G
ENST00000543739.5:n.1059C>G
NM_002180.2:c.2066C>G , LRG_250t1:c.2066C>G NP_002171.2:p.Pro689Arg
XM_005273974.2:c.1055C>G XP_005274031.1:p.Pro352Arg
XM_005273975.2:c.938C>G XP_005274032.1:p.Pro313Arg
XM_011544994.1:c.833C>G XP_011543296.1:p.Pro278Arg
XR_949903.1:n.2168C>G
XM_005273975.3:c.938C>G XP_005274032.1:p.Pro313Arg
XM_017017669.2:c.1055C>G XP_016873158.1:p.Pro352Arg
XM_017017670.2:c.1055C>G XP_016873159.1:p.Pro352Arg
XR_949903.3:n.2164C>G
NM_002180.3:c.2066C>G MANE Select NP_002171.2:p.Pro689Arg