Canonical Allele Identifier: CA381644753
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1858724824
COSMIC: COSM347532

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917754C>T , CM000673.2:g.68917754C>T GRCh38
NC_000011.9:g.68685222C>T , CM000673.1:g.68685222C>T GRCh37
NC_000011.8:g.68441798C>T NCBI36
NG_007976.1:g.18904C>T , LRG_250:g.18904C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.931C>T MANE Select ENSP00000255078.4:p.Gln311Ter
ENST00000674745.1:c.19C>T ENSP00000502738.1:p.Gln7Ter
ENST00000674775.1:n.19C>T
ENST00000674955.1:c.931C>T ENSP00000502463.1:p.Gln311Ter
ENST00000675118.1:c.419C>T
ENST00000675119.1:c.358C>T ENSP00000501861.1:n.358C>T
ENST00000675305.1:c.251C>T ENSP00000502365.1:n.251C>T
ENST00000675464.1:c.214C>T ENSP00000502650.1:p.Gln72Ter
ENST00000675493.1:n.19C>T
ENST00000675615.1:c.931C>T ENSP00000502413.1:p.Gln311Ter
ENST00000675648.1:n.306C>T
ENST00000675683.1:c.318C>T
ENST00000675684.1:c.19C>T ENSP00000502192.1:p.Gln7Ter
ENST00000676173.1:n.975C>T
ENST00000676228.1:c.*254C>T ENSP00000502375.1:n.*254C>T
ENST00000255078.7:c.931C>T ENSP00000255078.3:p.Gln311Ter
NM_002180.2:c.931C>T , LRG_250t1:c.931C>T NP_002171.2:p.Gln311Ter
XM_005273974.2:c.-81C>T XP_005274031.1:n.-81C>T
XM_005273976.1:c.931C>T XP_005274033.1:p.Gln311Ter
XR_247198.1:n.1033C>T
XR_949903.1:n.1033C>T
XM_005273976.2:c.931C>T XP_005274033.1:p.Gln311Ter
XM_017017669.2:c.-81C>T XP_016873158.1:n.-81C>T
XM_017017670.2:c.-81C>T XP_016873159.1:n.-81C>T
XM_017017671.2:c.931C>T XP_016873160.1:p.Gln311Ter
XR_949903.3:n.1029C>T
NM_002180.3:c.931C>T MANE Select NP_002171.2:p.Gln311Ter