Canonical Allele Identifier: CA381652891
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936621G>T , CM000673.2:g.68936621G>T GRCh38
NC_000011.9:g.68704089G>T , CM000673.1:g.68704089G>T GRCh37
NC_000011.8:g.68460665G>T NCBI36
NG_007976.1:g.37771G>T , LRG_250:g.37771G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2141G>T MANE Select ENSP00000255078.4:p.Gly714Val
ENST00000674675.1:c.385G>T
ENST00000674878.1:c.385G>T
ENST00000674955.1:c.*858G>T ENSP00000502463.1:n.*858G>T
ENST00000675118.1:c.1629G>T
ENST00000675389.1:n.416G>T
ENST00000675615.1:c.2141G>T ENSP00000502413.1:p.Gly714Val
ENST00000675648.1:n.1516G>T
ENST00000675916.1:c.385G>T
ENST00000676173.1:n.2886G>T
ENST00000676182.1:c.572G>T
ENST00000676228.1:c.*1464G>T ENSP00000502375.1:n.*1464G>T
ENST00000255078.7:c.2141G>T ENSP00000255078.3:p.Gly714Val
ENST00000539064.5:n.1900G>T
ENST00000543739.5:n.1134G>T
NM_002180.2:c.2141G>T , LRG_250t1:c.2141G>T NP_002171.2:p.Gly714Val
XM_005273974.2:c.1130G>T XP_005274031.1:p.Gly377Val
XM_005273975.2:c.1013G>T XP_005274032.1:p.Gly338Val
XM_011544994.1:c.908G>T XP_011543296.1:p.Gly303Val
XR_949903.1:n.2243G>T
XM_005273975.3:c.1013G>T XP_005274032.1:p.Gly338Val
XM_017017669.2:c.1130G>T XP_016873158.1:p.Gly377Val
XM_017017670.2:c.1130G>T XP_016873159.1:p.Gly377Val
XR_949903.3:n.2239G>T
NM_002180.3:c.2141G>T MANE Select NP_002171.2:p.Gly714Val