Canonical Allele Identifier: CA475204494
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704417T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936949T>C , CM000673.2:g.68936949T>C GRCh38
NC_000011.9:g.68704417T>C , CM000673.1:g.68704417T>C GRCh37
NC_000011.8:g.68460993T>C NCBI36
NG_007976.1:g.38099T>C , LRG_250:g.38099T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2469T>C MANE Select ENSP00000255078.4:p.Arg823=
ENST00000674675.1:c.614T>C
ENST00000674878.1:c.574T>C
ENST00000675118.1:c.1957T>C
ENST00000675389.1:n.744T>C
ENST00000675615.1:c.2469T>C ENSP00000502413.1:p.Arg823=
ENST00000675648.1:n.1844T>C
ENST00000675916.1:c.713T>C
ENST00000676173.1:n.3214T>C
ENST00000676182.1:c.900T>C
ENST00000676228.1:c.*1792T>C ENSP00000502375.1:n.*1792T>C
ENST00000255078.7:c.2469T>C ENSP00000255078.3:p.Arg823=
ENST00000539064.5:n.2228T>C
ENST00000543739.5:n.1462T>C
NM_002180.2:c.2469T>C , LRG_250t1:c.2469T>C NP_002171.2:p.Arg823=
XM_005273974.2:c.1458T>C XP_005274031.1:p.Arg486=
XM_005273975.2:c.1341T>C XP_005274032.1:p.Arg447=
XM_011544994.1:c.1236T>C XP_011543296.1:p.Arg412=
XR_949903.1:n.2571T>C
XM_005273975.3:c.1341T>C XP_005274032.1:p.Arg447=
XM_017017669.2:c.1458T>C XP_016873158.1:p.Arg486=
XM_017017670.2:c.1458T>C XP_016873159.1:p.Arg486=
XR_949903.3:n.2567T>C
NM_002180.3:c.2469T>C MANE Select NP_002171.2:p.Arg823=