Canonical Allele Identifier: CA381653170
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936746C>G , CM000673.2:g.68936746C>G GRCh38
NC_000011.9:g.68704214C>G , CM000673.1:g.68704214C>G GRCh37
NC_000011.8:g.68460790C>G NCBI36
NG_007976.1:g.37896C>G , LRG_250:g.37896C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2266C>G MANE Select ENSP00000255078.4:p.Leu756Val
ENST00000674675.1:c.510C>G
ENST00000674878.1:c.510C>G
ENST00000674955.1:c.*983C>G ENSP00000502463.1:n.*983C>G
ENST00000675118.1:c.1754C>G
ENST00000675389.1:n.541C>G
ENST00000675615.1:c.2266C>G ENSP00000502413.1:p.Leu756Val
ENST00000675648.1:n.1641C>G
ENST00000675916.1:c.510C>G
ENST00000676173.1:n.3011C>G
ENST00000676182.1:c.697C>G
ENST00000676228.1:c.*1589C>G ENSP00000502375.1:n.*1589C>G
ENST00000255078.7:c.2266C>G ENSP00000255078.3:p.Leu756Val
ENST00000539064.5:n.2025C>G
ENST00000543739.5:n.1259C>G
NM_002180.2:c.2266C>G , LRG_250t1:c.2266C>G NP_002171.2:p.Leu756Val
XM_005273974.2:c.1255C>G XP_005274031.1:p.Leu419Val
XM_005273975.2:c.1138C>G XP_005274032.1:p.Leu380Val
XM_011544994.1:c.1033C>G XP_011543296.1:p.Leu345Val
XR_949903.1:n.2368C>G
XM_005273975.3:c.1138C>G XP_005274032.1:p.Leu380Val
XM_017017669.2:c.1255C>G XP_016873158.1:p.Leu419Val
XM_017017670.2:c.1255C>G XP_016873159.1:p.Leu419Val
XR_949903.3:n.2364C>G
NM_002180.3:c.2266C>G MANE Select NP_002171.2:p.Leu756Val