Canonical Allele Identifier: CA381652509
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936437C>T , CM000673.2:g.68936437C>T GRCh38
NC_000011.9:g.68703905C>T , CM000673.1:g.68703905C>T GRCh37
NC_000011.8:g.68460481C>T NCBI36
NG_007976.1:g.37587C>T , LRG_250:g.37587C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1957C>T MANE Select ENSP00000255078.4:p.His653Tyr
ENST00000674675.1:c.201C>T
ENST00000674878.1:c.201C>T
ENST00000674955.1:c.*674C>T ENSP00000502463.1:n.*674C>T
ENST00000675118.1:c.1445C>T
ENST00000675389.1:n.232C>T
ENST00000675615.1:c.1957C>T ENSP00000502413.1:p.His653Tyr
ENST00000675648.1:n.1332C>T
ENST00000675916.1:c.201C>T
ENST00000676173.1:n.2702C>T
ENST00000676182.1:c.388C>T
ENST00000676228.1:c.*1280C>T ENSP00000502375.1:n.*1280C>T
ENST00000255078.7:c.1957C>T ENSP00000255078.3:p.His653Tyr
ENST00000539064.5:n.1716C>T
ENST00000543739.5:n.950C>T
ENST00000545475.1:n.553C>T
NM_002180.2:c.1957C>T , LRG_250t1:c.1957C>T NP_002171.2:p.His653Tyr
XM_005273974.2:c.946C>T XP_005274031.1:p.His316Tyr
XM_005273975.2:c.829C>T XP_005274032.1:p.His277Tyr
XM_011544994.1:c.724C>T XP_011543296.1:p.His242Tyr
XR_949903.1:n.2059C>T
XM_005273975.3:c.829C>T XP_005274032.1:p.His277Tyr
XM_017017669.2:c.946C>T XP_016873158.1:p.His316Tyr
XM_017017670.2:c.946C>T XP_016873159.1:p.His316Tyr
XR_949903.3:n.2055C>T
NM_002180.3:c.1957C>T MANE Select NP_002171.2:p.His653Tyr