Canonical Allele Identifier: CA381653353
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936827A>T , CM000673.2:g.68936827A>T GRCh38
NC_000011.9:g.68704295A>T , CM000673.1:g.68704295A>T GRCh37
NC_000011.8:g.68460871A>T NCBI36
NG_007976.1:g.37977A>T , LRG_250:g.37977A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2347A>T MANE Select ENSP00000255078.4:p.Ser783Cys
ENST00000674675.1:c.587+4A>T
ENST00000674878.1:c.547+44A>T
ENST00000674955.1:c.*1064A>T ENSP00000502463.1:n.*1064A>T
ENST00000675118.1:c.1835A>T
ENST00000675389.1:n.622A>T
ENST00000675615.1:c.2347A>T ENSP00000502413.1:p.Ser783Cys
ENST00000675648.1:n.1722A>T
ENST00000675916.1:c.591A>T
ENST00000676173.1:n.3092A>T
ENST00000676182.1:c.778A>T
ENST00000676228.1:c.*1670A>T ENSP00000502375.1:n.*1670A>T
ENST00000255078.7:c.2347A>T ENSP00000255078.3:p.Ser783Cys
ENST00000539064.5:n.2106A>T
ENST00000543739.5:n.1340A>T
NM_002180.2:c.2347A>T , LRG_250t1:c.2347A>T NP_002171.2:p.Ser783Cys
XM_005273974.2:c.1336A>T XP_005274031.1:p.Ser446Cys
XM_005273975.2:c.1219A>T XP_005274032.1:p.Ser407Cys
XM_011544994.1:c.1114A>T XP_011543296.1:p.Ser372Cys
XR_949903.1:n.2449A>T
XM_005273975.3:c.1219A>T XP_005274032.1:p.Ser407Cys
XM_017017669.2:c.1336A>T XP_016873158.1:p.Ser446Cys
XM_017017670.2:c.1336A>T XP_016873159.1:p.Ser446Cys
XR_949903.3:n.2445A>T
NM_002180.3:c.2347A>T MANE Select NP_002171.2:p.Ser783Cys