Canonical Allele Identifier: CA381653407
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs141594765

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936840C>G , CM000673.2:g.68936840C>G GRCh38
NC_000011.9:g.68704308C>G , CM000673.1:g.68704308C>G GRCh37
NC_000011.8:g.68460884C>G NCBI36
NG_007976.1:g.37990C>G , LRG_250:g.37990C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2360C>G MANE Select ENSP00000255078.4:p.Pro787Arg
ENST00000674675.1:c.587+17C>G
ENST00000674878.1:c.547+57C>G
ENST00000674955.1:c.*1077C>G ENSP00000502463.1:n.*1077C>G
ENST00000675118.1:c.1848C>G
ENST00000675389.1:n.635C>G
ENST00000675615.1:c.2360C>G ENSP00000502413.1:p.Pro787Arg
ENST00000675648.1:n.1735C>G
ENST00000675916.1:c.604C>G
ENST00000676173.1:n.3105C>G
ENST00000676182.1:c.791C>G
ENST00000676228.1:c.*1683C>G ENSP00000502375.1:n.*1683C>G
ENST00000255078.7:c.2360C>G ENSP00000255078.3:p.Pro787Arg
ENST00000539064.5:n.2119C>G
ENST00000543739.5:n.1353C>G
NM_002180.2:c.2360C>G , LRG_250t1:c.2360C>G NP_002171.2:p.Pro787Arg
XM_005273974.2:c.1349C>G XP_005274031.1:p.Pro450Arg
XM_005273975.2:c.1232C>G XP_005274032.1:p.Pro411Arg
XM_011544994.1:c.1127C>G XP_011543296.1:p.Pro376Arg
XR_949903.1:n.2462C>G
XM_005273975.3:c.1232C>G XP_005274032.1:p.Pro411Arg
XM_017017669.2:c.1349C>G XP_016873158.1:p.Pro450Arg
XM_017017670.2:c.1349C>G XP_016873159.1:p.Pro450Arg
XR_949903.3:n.2458C>G
NM_002180.3:c.2360C>G MANE Select NP_002171.2:p.Pro787Arg