Canonical Allele Identifier: CA475280879
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704372G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936904G>C , CM000673.2:g.68936904G>C GRCh38
NC_000011.9:g.68704372G>C , CM000673.1:g.68704372G>C GRCh37
NC_000011.8:g.68460948G>C NCBI36
NG_007976.1:g.38054G>C , LRG_250:g.38054G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2424G>C MANE Select ENSP00000255078.4:p.Val808=
ENST00000674675.1:c.588-19G>C
ENST00000674878.1:c.548-19G>C
ENST00000675118.1:c.1912G>C
ENST00000675389.1:n.699G>C
ENST00000675615.1:c.2424G>C ENSP00000502413.1:p.Val808=
ENST00000675648.1:n.1799G>C
ENST00000675916.1:c.668G>C
ENST00000676173.1:n.3169G>C
ENST00000676182.1:c.855G>C
ENST00000676228.1:c.*1747G>C ENSP00000502375.1:n.*1747G>C
ENST00000255078.7:c.2424G>C ENSP00000255078.3:p.Val808=
ENST00000539064.5:n.2183G>C
ENST00000543739.5:n.1417G>C
NM_002180.2:c.2424G>C , LRG_250t1:c.2424G>C NP_002171.2:p.Val808=
XM_005273974.2:c.1413G>C XP_005274031.1:p.Val471=
XM_005273975.2:c.1296G>C XP_005274032.1:p.Val432=
XM_011544994.1:c.1191G>C XP_011543296.1:p.Val397=
XR_949903.1:n.2526G>C
XM_005273975.3:c.1296G>C XP_005274032.1:p.Val432=
XM_017017669.2:c.1413G>C XP_016873158.1:p.Val471=
XM_017017670.2:c.1413G>C XP_016873159.1:p.Val471=
XR_949903.3:n.2522G>C
NM_002180.3:c.2424G>C MANE Select NP_002171.2:p.Val808=