Canonical Allele Identifier: CA381653575
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936899C>G , CM000673.2:g.68936899C>G GRCh38
NC_000011.9:g.68704367C>G , CM000673.1:g.68704367C>G GRCh37
NC_000011.8:g.68460943C>G NCBI36
NG_007976.1:g.38049C>G , LRG_250:g.38049C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2419C>G MANE Select ENSP00000255078.4:p.Pro807Ala
ENST00000674675.1:c.588-24C>G
ENST00000674878.1:c.548-24C>G
ENST00000675118.1:c.1907C>G
ENST00000675389.1:n.694C>G
ENST00000675615.1:c.2419C>G ENSP00000502413.1:p.Pro807Ala
ENST00000675648.1:n.1794C>G
ENST00000675916.1:c.663C>G
ENST00000676173.1:n.3164C>G
ENST00000676182.1:c.850C>G
ENST00000676228.1:c.*1742C>G ENSP00000502375.1:n.*1742C>G
ENST00000255078.7:c.2419C>G ENSP00000255078.3:p.Pro807Ala
ENST00000539064.5:n.2178C>G
ENST00000543739.5:n.1412C>G
NM_002180.2:c.2419C>G , LRG_250t1:c.2419C>G NP_002171.2:p.Pro807Ala
XM_005273974.2:c.1408C>G XP_005274031.1:p.Pro470Ala
XM_005273975.2:c.1291C>G XP_005274032.1:p.Pro431Ala
XM_011544994.1:c.1186C>G XP_011543296.1:p.Pro396Ala
XR_949903.1:n.2521C>G
XM_005273975.3:c.1291C>G XP_005274032.1:p.Pro431Ala
XM_017017669.2:c.1408C>G XP_016873158.1:p.Pro470Ala
XM_017017670.2:c.1408C>G XP_016873159.1:p.Pro470Ala
XR_949903.3:n.2517C>G
NM_002180.3:c.2419C>G MANE Select NP_002171.2:p.Pro807Ala