Canonical Allele Identifier: CA381652495
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936431T>C , CM000673.2:g.68936431T>C GRCh38
NC_000011.9:g.68703899T>C , CM000673.1:g.68703899T>C GRCh37
NC_000011.8:g.68460475T>C NCBI36
NG_007976.1:g.37581T>C , LRG_250:g.37581T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1951T>C MANE Select ENSP00000255078.4:p.Tyr651His
ENST00000674675.1:c.195T>C
ENST00000674878.1:c.195T>C
ENST00000674955.1:c.*668T>C ENSP00000502463.1:n.*668T>C
ENST00000675118.1:c.1439T>C
ENST00000675389.1:n.226T>C
ENST00000675615.1:c.1951T>C ENSP00000502413.1:p.Tyr651His
ENST00000675648.1:n.1326T>C
ENST00000675916.1:c.195T>C
ENST00000676173.1:n.2696T>C
ENST00000676182.1:c.382T>C
ENST00000676228.1:c.*1274T>C ENSP00000502375.1:n.*1274T>C
ENST00000255078.7:c.1951T>C ENSP00000255078.3:p.Tyr651His
ENST00000539064.5:n.1710T>C
ENST00000543739.5:n.944T>C
ENST00000545475.1:n.547T>C
NM_002180.2:c.1951T>C , LRG_250t1:c.1951T>C NP_002171.2:p.Tyr651His
XM_005273974.2:c.940T>C XP_005274031.1:p.Tyr314His
XM_005273975.2:c.823T>C XP_005274032.1:p.Tyr275His
XM_011544994.1:c.718T>C XP_011543296.1:p.Tyr240His
XR_949903.1:n.2053T>C
XM_005273975.3:c.823T>C XP_005274032.1:p.Tyr275His
XM_017017669.2:c.940T>C XP_016873158.1:p.Tyr314His
XM_017017670.2:c.940T>C XP_016873159.1:p.Tyr314His
XR_949903.3:n.2049T>C
NM_002180.3:c.1951T>C MANE Select NP_002171.2:p.Tyr651His