Canonical Allele Identifier: CA381643380
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 521206
dbSNP Id: rs1324667543

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908327C>T , CM000673.2:g.68908327C>T GRCh38
NC_000011.9:g.68675795C>T , CM000673.1:g.68675795C>T GRCh37
NC_000011.8:g.68432371C>T NCBI36
NG_007976.1:g.9477C>T , LRG_250:g.9477C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.439C>T MANE Select ENSP00000255078.4:p.Arg147Ter
ENST00000539224.2:c.402C>T
ENST00000674583.1:c.402C>T
ENST00000674597.1:c.250C>T
ENST00000674955.1:c.439C>T ENSP00000502463.1:p.Arg147Ter
ENST00000675142.1:n.402C>T
ENST00000675469.1:c.315C>T
ENST00000675615.1:c.439C>T ENSP00000502413.1:p.Arg147Ter
ENST00000675674.1:n.402C>T
ENST00000675873.1:c.402C>T
ENST00000676173.1:n.483C>T
ENST00000676228.1:c.439C>T ENSP00000502375.1:p.Arg147Ter
ENST00000255078.7:c.439C>T ENSP00000255078.3:p.Arg147Ter
ENST00000539224.1:c.439C>T ENSP00000440465.1:p.Arg147Ter
ENST00000544541.1:c.*179C>T ENSP00000443343.1:n.*179C>T
NM_002180.2:c.439C>T , LRG_250t1:c.439C>T NP_002171.2:p.Arg147Ter
XM_005273974.2:c.-573C>T XP_005274031.1:n.-573C>T
XM_005273976.1:c.439C>T XP_005274033.1:p.Arg147Ter
XR_247198.1:n.541C>T
XR_949903.1:n.541C>T
XM_005273976.2:c.439C>T XP_005274033.1:p.Arg147Ter
XM_017017669.2:c.-475C>T XP_016873158.1:n.-475C>T
XM_017017671.2:c.439C>T XP_016873160.1:p.Arg147Ter
XR_949903.3:n.537C>T
NM_002180.3:c.439C>T MANE Select NP_002171.2:p.Arg147Ter