Canonical Allele Identifier: CA381652940
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936644A>C , CM000673.2:g.68936644A>C GRCh38
NC_000011.9:g.68704112A>C , CM000673.1:g.68704112A>C GRCh37
NC_000011.8:g.68460688A>C NCBI36
NG_007976.1:g.37794A>C , LRG_250:g.37794A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2164A>C MANE Select ENSP00000255078.4:p.Ser722Arg
ENST00000674675.1:c.408A>C
ENST00000674878.1:c.408A>C
ENST00000674955.1:c.*881A>C ENSP00000502463.1:n.*881A>C
ENST00000675118.1:c.1652A>C
ENST00000675389.1:n.439A>C
ENST00000675615.1:c.2164A>C ENSP00000502413.1:p.Ser722Arg
ENST00000675648.1:n.1539A>C
ENST00000675916.1:c.408A>C
ENST00000676173.1:n.2909A>C
ENST00000676182.1:c.595A>C
ENST00000676228.1:c.*1487A>C ENSP00000502375.1:n.*1487A>C
ENST00000255078.7:c.2164A>C ENSP00000255078.3:p.Ser722Arg
ENST00000539064.5:n.1923A>C
ENST00000543739.5:n.1157A>C
NM_002180.2:c.2164A>C , LRG_250t1:c.2164A>C NP_002171.2:p.Ser722Arg
XM_005273974.2:c.1153A>C XP_005274031.1:p.Ser385Arg
XM_005273975.2:c.1036A>C XP_005274032.1:p.Ser346Arg
XM_011544994.1:c.931A>C XP_011543296.1:p.Ser311Arg
XR_949903.1:n.2266A>C
XM_005273975.3:c.1036A>C XP_005274032.1:p.Ser346Arg
XM_017017669.2:c.1153A>C XP_016873158.1:p.Ser385Arg
XM_017017670.2:c.1153A>C XP_016873159.1:p.Ser385Arg
XR_949903.3:n.2262A>C
NM_002180.3:c.2164A>C MANE Select NP_002171.2:p.Ser722Arg