Canonical Allele Identifier: CA475280821
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704312A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936844A>T , CM000673.2:g.68936844A>T GRCh38
NC_000011.9:g.68704312A>T , CM000673.1:g.68704312A>T GRCh37
NC_000011.8:g.68460888A>T NCBI36
NG_007976.1:g.37994A>T , LRG_250:g.37994A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2364A>T MANE Select ENSP00000255078.4:p.Arg788=
ENST00000674675.1:c.587+21A>T
ENST00000674878.1:c.547+61A>T
ENST00000674955.1:c.*1081A>T ENSP00000502463.1:n.*1081A>T
ENST00000675118.1:c.1852A>T
ENST00000675389.1:n.639A>T
ENST00000675615.1:c.2364A>T ENSP00000502413.1:p.Arg788=
ENST00000675648.1:n.1739A>T
ENST00000675916.1:c.608A>T
ENST00000676173.1:n.3109A>T
ENST00000676182.1:c.795A>T
ENST00000676228.1:c.*1687A>T ENSP00000502375.1:n.*1687A>T
ENST00000255078.7:c.2364A>T ENSP00000255078.3:p.Arg788=
ENST00000539064.5:n.2123A>T
ENST00000543739.5:n.1357A>T
NM_002180.2:c.2364A>T , LRG_250t1:c.2364A>T NP_002171.2:p.Arg788=
XM_005273974.2:c.1353A>T XP_005274031.1:p.Arg451=
XM_005273975.2:c.1236A>T XP_005274032.1:p.Arg412=
XM_011544994.1:c.1131A>T XP_011543296.1:p.Arg377=
XR_949903.1:n.2466A>T
XM_005273975.3:c.1236A>T XP_005274032.1:p.Arg412=
XM_017017669.2:c.1353A>T XP_016873158.1:p.Arg451=
XM_017017670.2:c.1353A>T XP_016873159.1:p.Arg451=
XR_949903.3:n.2462A>T
NM_002180.3:c.2364A>T MANE Select NP_002171.2:p.Arg788=