Canonical Allele Identifier: CA381652073
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936423C>T , CM000673.2:g.68936423C>T GRCh38
NC_000011.9:g.68703891C>T , CM000673.1:g.68703891C>T GRCh37
NC_000011.8:g.68460467C>T NCBI36
NG_007976.1:g.37573C>T , LRG_250:g.37573C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1943C>T MANE Select ENSP00000255078.4:p.Pro648Leu
ENST00000674675.1:c.187C>T
ENST00000674878.1:c.187C>T
ENST00000674955.1:c.*660C>T ENSP00000502463.1:n.*660C>T
ENST00000675118.1:c.1431C>T
ENST00000675389.1:n.218C>T
ENST00000675615.1:c.1943C>T ENSP00000502413.1:p.Pro648Leu
ENST00000675648.1:n.1318C>T
ENST00000675916.1:c.187C>T
ENST00000676173.1:n.2688C>T
ENST00000676182.1:c.374C>T
ENST00000676228.1:c.*1266C>T ENSP00000502375.1:n.*1266C>T
ENST00000255078.7:c.1943C>T ENSP00000255078.3:p.Pro648Leu
ENST00000539064.5:n.1702C>T
ENST00000543739.5:n.936C>T
ENST00000545475.1:n.539C>T
NM_002180.2:c.1943C>T , LRG_250t1:c.1943C>T NP_002171.2:p.Pro648Leu
XM_005273974.2:c.932C>T XP_005274031.1:p.Pro311Leu
XM_005273975.2:c.815C>T XP_005274032.1:p.Pro272Leu
XM_011544994.1:c.710C>T XP_011543296.1:p.Pro237Leu
XR_949903.1:n.2045C>T
XM_005273975.3:c.815C>T XP_005274032.1:p.Pro272Leu
XM_017017669.2:c.932C>T XP_016873158.1:p.Pro311Leu
XM_017017670.2:c.932C>T XP_016873159.1:p.Pro311Leu
XR_949903.3:n.2041C>T
NM_002180.3:c.1943C>T MANE Select NP_002171.2:p.Pro648Leu