Canonical Allele Identifier: CA381653540
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936888C>G , CM000673.2:g.68936888C>G GRCh38
NC_000011.9:g.68704356C>G , CM000673.1:g.68704356C>G GRCh37
NC_000011.8:g.68460932C>G NCBI36
NG_007976.1:g.38038C>G , LRG_250:g.38038C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2408C>G MANE Select ENSP00000255078.4:p.Ala803Gly
ENST00000674675.1:c.588-35C>G
ENST00000674878.1:c.548-35C>G
ENST00000675118.1:c.1896C>G
ENST00000675389.1:n.683C>G
ENST00000675615.1:c.2408C>G ENSP00000502413.1:p.Ala803Gly
ENST00000675648.1:n.1783C>G
ENST00000675916.1:c.652C>G
ENST00000676173.1:n.3153C>G
ENST00000676182.1:c.839C>G
ENST00000676228.1:c.*1731C>G ENSP00000502375.1:n.*1731C>G
ENST00000255078.7:c.2408C>G ENSP00000255078.3:p.Ala803Gly
ENST00000539064.5:n.2167C>G
ENST00000543739.5:n.1401C>G
NM_002180.2:c.2408C>G , LRG_250t1:c.2408C>G NP_002171.2:p.Ala803Gly
XM_005273974.2:c.1397C>G XP_005274031.1:p.Ala466Gly
XM_005273975.2:c.1280C>G XP_005274032.1:p.Ala427Gly
XM_011544994.1:c.1175C>G XP_011543296.1:p.Ala392Gly
XR_949903.1:n.2510C>G
XM_005273975.3:c.1280C>G XP_005274032.1:p.Ala427Gly
XM_017017669.2:c.1397C>G XP_016873158.1:p.Ala466Gly
XM_017017670.2:c.1397C>G XP_016873159.1:p.Ala466Gly
XR_949903.3:n.2506C>G
NM_002180.3:c.2408C>G MANE Select NP_002171.2:p.Ala803Gly