Canonical Allele Identifier: CA381653259
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936787C>G , CM000673.2:g.68936787C>G GRCh38
NC_000011.9:g.68704255C>G , CM000673.1:g.68704255C>G GRCh37
NC_000011.8:g.68460831C>G NCBI36
NG_007976.1:g.37937C>G , LRG_250:g.37937C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2307C>G MANE Select ENSP00000255078.4:p.His769Gln
ENST00000674675.1:c.551C>G
ENST00000674878.1:c.547+4C>G
ENST00000674955.1:c.*1024C>G ENSP00000502463.1:n.*1024C>G
ENST00000675118.1:c.1795C>G
ENST00000675389.1:n.582C>G
ENST00000675615.1:c.2307C>G ENSP00000502413.1:p.His769Gln
ENST00000675648.1:n.1682C>G
ENST00000675916.1:c.551C>G
ENST00000676173.1:n.3052C>G
ENST00000676182.1:c.738C>G
ENST00000676228.1:c.*1630C>G ENSP00000502375.1:n.*1630C>G
ENST00000255078.7:c.2307C>G ENSP00000255078.3:p.His769Gln
ENST00000539064.5:n.2066C>G
ENST00000543739.5:n.1300C>G
NM_002180.2:c.2307C>G , LRG_250t1:c.2307C>G NP_002171.2:p.His769Gln
XM_005273974.2:c.1296C>G XP_005274031.1:p.His432Gln
XM_005273975.2:c.1179C>G XP_005274032.1:p.His393Gln
XM_011544994.1:c.1074C>G XP_011543296.1:p.His358Gln
XR_949903.1:n.2409C>G
XM_005273975.3:c.1179C>G XP_005274032.1:p.His393Gln
XM_017017669.2:c.1296C>G XP_016873158.1:p.His432Gln
XM_017017670.2:c.1296C>G XP_016873159.1:p.His432Gln
XR_949903.3:n.2405C>G
NM_002180.3:c.2307C>G MANE Select NP_002171.2:p.His769Gln