Canonical Allele Identifier: CA381652525
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936444A>C , CM000673.2:g.68936444A>C GRCh38
NC_000011.9:g.68703912A>C , CM000673.1:g.68703912A>C GRCh37
NC_000011.8:g.68460488A>C NCBI36
NG_007976.1:g.37594A>C , LRG_250:g.37594A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1964A>C MANE Select ENSP00000255078.4:p.Asn655Thr
ENST00000674675.1:c.208A>C
ENST00000674878.1:c.208A>C
ENST00000674955.1:c.*681A>C ENSP00000502463.1:n.*681A>C
ENST00000675118.1:c.1452A>C
ENST00000675389.1:n.239A>C
ENST00000675615.1:c.1964A>C ENSP00000502413.1:p.Asn655Thr
ENST00000675648.1:n.1339A>C
ENST00000675916.1:c.208A>C
ENST00000676173.1:n.2709A>C
ENST00000676182.1:c.395A>C
ENST00000676228.1:c.*1287A>C ENSP00000502375.1:n.*1287A>C
ENST00000255078.7:c.1964A>C ENSP00000255078.3:p.Asn655Thr
ENST00000539064.5:n.1723A>C
ENST00000543739.5:n.957A>C
ENST00000545475.1:n.560A>C
NM_002180.2:c.1964A>C , LRG_250t1:c.1964A>C NP_002171.2:p.Asn655Thr
XM_005273974.2:c.953A>C XP_005274031.1:p.Asn318Thr
XM_005273975.2:c.836A>C XP_005274032.1:p.Asn279Thr
XM_011544994.1:c.731A>C XP_011543296.1:p.Asn244Thr
XR_949903.1:n.2066A>C
XM_005273975.3:c.836A>C XP_005274032.1:p.Asn279Thr
XM_017017669.2:c.953A>C XP_016873158.1:p.Asn318Thr
XM_017017670.2:c.953A>C XP_016873159.1:p.Asn318Thr
XR_949903.3:n.2062A>C
NM_002180.3:c.1964A>C MANE Select NP_002171.2:p.Asn655Thr