Canonical Allele Identifier: CA381653157
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs200499838

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936740G>T , CM000673.2:g.68936740G>T GRCh38
NC_000011.9:g.68704208G>T , CM000673.1:g.68704208G>T GRCh37
NC_000011.8:g.68460784G>T NCBI36
NG_007976.1:g.37890G>T , LRG_250:g.37890G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2260G>T MANE Select ENSP00000255078.4:p.Asp754Tyr
ENST00000674675.1:c.504G>T
ENST00000674878.1:c.504G>T
ENST00000674955.1:c.*977G>T ENSP00000502463.1:n.*977G>T
ENST00000675118.1:c.1748G>T
ENST00000675389.1:n.535G>T
ENST00000675615.1:c.2260G>T ENSP00000502413.1:p.Asp754Tyr
ENST00000675648.1:n.1635G>T
ENST00000675916.1:c.504G>T
ENST00000676173.1:n.3005G>T
ENST00000676182.1:c.691G>T
ENST00000676228.1:c.*1583G>T ENSP00000502375.1:n.*1583G>T
ENST00000255078.7:c.2260G>T ENSP00000255078.3:p.Asp754Tyr
ENST00000539064.5:n.2019G>T
ENST00000543739.5:n.1253G>T
NM_002180.2:c.2260G>T , LRG_250t1:c.2260G>T NP_002171.2:p.Asp754Tyr
XM_005273974.2:c.1249G>T XP_005274031.1:p.Asp417Tyr
XM_005273975.2:c.1132G>T XP_005274032.1:p.Asp378Tyr
XM_011544994.1:c.1027G>T XP_011543296.1:p.Asp343Tyr
XR_949903.1:n.2362G>T
XM_005273975.3:c.1132G>T XP_005274032.1:p.Asp378Tyr
XM_017017669.2:c.1249G>T XP_016873158.1:p.Asp417Tyr
XM_017017670.2:c.1249G>T XP_016873159.1:p.Asp417Tyr
XR_949903.3:n.2358G>T
NM_002180.3:c.2260G>T MANE Select NP_002171.2:p.Asp754Tyr