Canonical Allele Identifier: CA223392614
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 522258
dbSNP Id: rs557416644

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68915015C>T , CM000673.2:g.68915015C>T GRCh38
NC_000011.9:g.68682483C>T , CM000673.1:g.68682483C>T GRCh37
NC_000011.8:g.68439059C>T NCBI36
NG_007976.1:g.16165C>T , LRG_250:g.16165C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.904C>T MANE Select ENSP00000255078.4:p.Gln302Ter
ENST00000539224.2:c.1033C>T
ENST00000674955.1:c.904C>T ENSP00000502463.1:p.Gln302Ter
ENST00000675118.1:c.251C>T
ENST00000675119.1:c.193C>T ENSP00000501861.1:p.Gln65Ter
ENST00000675305.1:c.193C>T ENSP00000502365.1:p.Gln65Ter
ENST00000675464.1:c.193C>T ENSP00000502650.1:p.Gln65Ter
ENST00000675615.1:c.904C>T ENSP00000502413.1:p.Gln302Ter
ENST00000675683.1:c.291C>T
ENST00000676173.1:n.948C>T
ENST00000676228.1:c.*227C>T ENSP00000502375.1:n.*227C>T
ENST00000676239.1:n.218C>T
ENST00000255078.7:c.904C>T ENSP00000255078.3:p.Gln302Ter
NM_002180.2:c.904C>T , LRG_250t1:c.904C>T NP_002171.2:p.Gln302Ter
XM_005273974.2:c.-108C>T XP_005274031.1:n.-108C>T
XM_005273976.1:c.904C>T XP_005274033.1:p.Gln302Ter
XR_247198.1:n.1006C>T
XR_949903.1:n.1006C>T
XM_005273976.2:c.904C>T XP_005274033.1:p.Gln302Ter
XM_017017669.2:c.-108C>T XP_016873158.1:n.-108C>T
XM_017017670.2:c.-108C>T XP_016873159.1:n.-108C>T
XM_017017671.2:c.904C>T XP_016873160.1:p.Gln302Ter
XR_949903.3:n.1002C>T
NM_002180.3:c.904C>T MANE Select NP_002171.2:p.Gln302Ter