Canonical Allele Identifier: CA381653062
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936700G>C , CM000673.2:g.68936700G>C GRCh38
NC_000011.9:g.68704168G>C , CM000673.1:g.68704168G>C GRCh37
NC_000011.8:g.68460744G>C NCBI36
NG_007976.1:g.37850G>C , LRG_250:g.37850G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2220G>C MANE Select ENSP00000255078.4:p.Lys740Asn
ENST00000674675.1:c.464G>C
ENST00000674878.1:c.464G>C
ENST00000674955.1:c.*937G>C ENSP00000502463.1:n.*937G>C
ENST00000675118.1:c.1708G>C
ENST00000675389.1:n.495G>C
ENST00000675615.1:c.2220G>C ENSP00000502413.1:p.Lys740Asn
ENST00000675648.1:n.1595G>C
ENST00000675916.1:c.464G>C
ENST00000676173.1:n.2965G>C
ENST00000676182.1:c.651G>C
ENST00000676228.1:c.*1543G>C ENSP00000502375.1:n.*1543G>C
ENST00000255078.7:c.2220G>C ENSP00000255078.3:p.Lys740Asn
ENST00000539064.5:n.1979G>C
ENST00000543739.5:n.1213G>C
NM_002180.2:c.2220G>C , LRG_250t1:c.2220G>C NP_002171.2:p.Lys740Asn
XM_005273974.2:c.1209G>C XP_005274031.1:p.Lys403Asn
XM_005273975.2:c.1092G>C XP_005274032.1:p.Lys364Asn
XM_011544994.1:c.987G>C XP_011543296.1:p.Lys329Asn
XR_949903.1:n.2322G>C
XM_005273975.3:c.1092G>C XP_005274032.1:p.Lys364Asn
XM_017017669.2:c.1209G>C XP_016873158.1:p.Lys403Asn
XM_017017670.2:c.1209G>C XP_016873159.1:p.Lys403Asn
XR_949903.3:n.2318G>C
NM_002180.3:c.2220G>C MANE Select NP_002171.2:p.Lys740Asn