Canonical Allele Identifier: CA475280180
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704147A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936679A>C , CM000673.2:g.68936679A>C GRCh38
NC_000011.9:g.68704147A>C , CM000673.1:g.68704147A>C GRCh37
NC_000011.8:g.68460723A>C NCBI36
NG_007976.1:g.37829A>C , LRG_250:g.37829A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2199A>C MANE Select ENSP00000255078.4:p.Ile733=
ENST00000674675.1:c.443A>C
ENST00000674878.1:c.443A>C
ENST00000674955.1:c.*916A>C ENSP00000502463.1:n.*916A>C
ENST00000675118.1:c.1687A>C
ENST00000675389.1:n.474A>C
ENST00000675615.1:c.2199A>C ENSP00000502413.1:p.Ile733=
ENST00000675648.1:n.1574A>C
ENST00000675916.1:c.443A>C
ENST00000676173.1:n.2944A>C
ENST00000676182.1:c.630A>C
ENST00000676228.1:c.*1522A>C ENSP00000502375.1:n.*1522A>C
ENST00000255078.7:c.2199A>C ENSP00000255078.3:p.Ile733=
ENST00000539064.5:n.1958A>C
ENST00000543739.5:n.1192A>C
NM_002180.2:c.2199A>C , LRG_250t1:c.2199A>C NP_002171.2:p.Ile733=
XM_005273974.2:c.1188A>C XP_005274031.1:p.Ile396=
XM_005273975.2:c.1071A>C XP_005274032.1:p.Ile357=
XM_011544994.1:c.966A>C XP_011543296.1:p.Ile322=
XR_949903.1:n.2301A>C
XM_005273975.3:c.1071A>C XP_005274032.1:p.Ile357=
XM_017017669.2:c.1188A>C XP_016873158.1:p.Ile396=
XM_017017670.2:c.1188A>C XP_016873159.1:p.Ile396=
XR_949903.3:n.2297A>C
NM_002180.3:c.2199A>C MANE Select NP_002171.2:p.Ile733=