Canonical Allele Identifier: CA381652617
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936486C>G , CM000673.2:g.68936486C>G GRCh38
NC_000011.9:g.68703954C>G , CM000673.1:g.68703954C>G GRCh37
NC_000011.8:g.68460530C>G NCBI36
NG_007976.1:g.37636C>G , LRG_250:g.37636C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2006C>G MANE Select ENSP00000255078.4:p.Pro669Arg
ENST00000674675.1:c.250C>G
ENST00000674878.1:c.250C>G
ENST00000674955.1:c.*723C>G ENSP00000502463.1:n.*723C>G
ENST00000675118.1:c.1494C>G
ENST00000675389.1:n.281C>G
ENST00000675615.1:c.2006C>G ENSP00000502413.1:p.Pro669Arg
ENST00000675648.1:n.1381C>G
ENST00000675916.1:c.250C>G
ENST00000676173.1:n.2751C>G
ENST00000676182.1:c.437C>G
ENST00000676228.1:c.*1329C>G ENSP00000502375.1:n.*1329C>G
ENST00000255078.7:c.2006C>G ENSP00000255078.3:p.Pro669Arg
ENST00000539064.5:n.1765C>G
ENST00000543739.5:n.999C>G
NM_002180.2:c.2006C>G , LRG_250t1:c.2006C>G NP_002171.2:p.Pro669Arg
XM_005273974.2:c.995C>G XP_005274031.1:p.Pro332Arg
XM_005273975.2:c.878C>G XP_005274032.1:p.Pro293Arg
XM_011544994.1:c.773C>G XP_011543296.1:p.Pro258Arg
XR_949903.1:n.2108C>G
XM_005273975.3:c.878C>G XP_005274032.1:p.Pro293Arg
XM_017017669.2:c.995C>G XP_016873158.1:p.Pro332Arg
XM_017017670.2:c.995C>G XP_016873159.1:p.Pro332Arg
XR_949903.3:n.2104C>G
NM_002180.3:c.2006C>G MANE Select NP_002171.2:p.Pro669Arg