Canonical Allele Identifier: CA381649708
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933815C>A , CM000673.2:g.68933815C>A GRCh38
NC_000011.9:g.68701283C>A , CM000673.1:g.68701283C>A GRCh37
NC_000011.8:g.68457859C>A NCBI36
NG_007976.1:g.34965C>A , LRG_250:g.34965C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1439C>A MANE Select ENSP00000255078.4:p.Ala480Asp
ENST00000674955.1:c.*156C>A ENSP00000502463.1:n.*156C>A
ENST00000675118.1:c.927C>A
ENST00000675205.1:n.183+334C>A
ENST00000675615.1:c.1439C>A ENSP00000502413.1:p.Ala480Asp
ENST00000675648.1:n.814C>A
ENST00000675997.1:n.113-649C>A
ENST00000676173.1:n.2184C>A
ENST00000676228.1:c.*762C>A ENSP00000502375.1:n.*762C>A
ENST00000255078.7:c.1439C>A ENSP00000255078.3:p.Ala480Asp
ENST00000537458.5:n.556C>A
ENST00000539064.5:n.1198C>A
ENST00000541229.5:n.134C>A
ENST00000543739.5:n.556C>A
NM_002180.2:c.1439C>A , LRG_250t1:c.1439C>A NP_002171.2:p.Ala480Asp
XM_005273974.2:c.428C>A XP_005274031.1:p.Ala143Asp
XM_005273975.2:c.311C>A XP_005274032.1:p.Ala104Asp
XM_011544994.1:c.206C>A XP_011543296.1:p.Ala69Asp
XR_949903.1:n.1541C>A
XM_005273975.3:c.311C>A XP_005274032.1:p.Ala104Asp
XM_017017669.2:c.428C>A XP_016873158.1:p.Ala143Asp
XM_017017670.2:c.428C>A XP_016873159.1:p.Ala143Asp
XM_017017671.2:c.1439C>A XP_016873160.1:p.Ala480Asp
XR_949903.3:n.1537C>A
NM_002180.3:c.1439C>A MANE Select NP_002171.2:p.Ala480Asp