Canonical Allele Identifier: CA381653284
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936798G>T , CM000673.2:g.68936798G>T GRCh38
NC_000011.9:g.68704266G>T , CM000673.1:g.68704266G>T GRCh37
NC_000011.8:g.68460842G>T NCBI36
NG_007976.1:g.37948G>T , LRG_250:g.37948G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2318G>T MANE Select ENSP00000255078.4:p.Gly773Val
ENST00000674675.1:c.562G>T
ENST00000674878.1:c.547+15G>T
ENST00000674955.1:c.*1035G>T ENSP00000502463.1:n.*1035G>T
ENST00000675118.1:c.1806G>T
ENST00000675389.1:n.593G>T
ENST00000675615.1:c.2318G>T ENSP00000502413.1:p.Gly773Val
ENST00000675648.1:n.1693G>T
ENST00000675916.1:c.562G>T
ENST00000676173.1:n.3063G>T
ENST00000676182.1:c.749G>T
ENST00000676228.1:c.*1641G>T ENSP00000502375.1:n.*1641G>T
ENST00000255078.7:c.2318G>T ENSP00000255078.3:p.Gly773Val
ENST00000539064.5:n.2077G>T
ENST00000543739.5:n.1311G>T
NM_002180.2:c.2318G>T , LRG_250t1:c.2318G>T NP_002171.2:p.Gly773Val
XM_005273974.2:c.1307G>T XP_005274031.1:p.Gly436Val
XM_005273975.2:c.1190G>T XP_005274032.1:p.Gly397Val
XM_011544994.1:c.1085G>T XP_011543296.1:p.Gly362Val
XR_949903.1:n.2420G>T
XM_005273975.3:c.1190G>T XP_005274032.1:p.Gly397Val
XM_017017669.2:c.1307G>T XP_016873158.1:p.Gly436Val
XM_017017670.2:c.1307G>T XP_016873159.1:p.Gly436Val
XR_949903.3:n.2416G>T
NM_002180.3:c.2318G>T MANE Select NP_002171.2:p.Gly773Val