Canonical Allele Identifier: CA381653582
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936900C>T , CM000673.2:g.68936900C>T GRCh38
NC_000011.9:g.68704368C>T , CM000673.1:g.68704368C>T GRCh37
NC_000011.8:g.68460944C>T NCBI36
NG_007976.1:g.38050C>T , LRG_250:g.38050C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2420C>T MANE Select ENSP00000255078.4:p.Pro807Leu
ENST00000674675.1:c.588-23C>T
ENST00000674878.1:c.548-23C>T
ENST00000675118.1:c.1908C>T
ENST00000675389.1:n.695C>T
ENST00000675615.1:c.2420C>T ENSP00000502413.1:p.Pro807Leu
ENST00000675648.1:n.1795C>T
ENST00000675916.1:c.664C>T
ENST00000676173.1:n.3165C>T
ENST00000676182.1:c.851C>T
ENST00000676228.1:c.*1743C>T ENSP00000502375.1:n.*1743C>T
ENST00000255078.7:c.2420C>T ENSP00000255078.3:p.Pro807Leu
ENST00000539064.5:n.2179C>T
ENST00000543739.5:n.1413C>T
NM_002180.2:c.2420C>T , LRG_250t1:c.2420C>T NP_002171.2:p.Pro807Leu
XM_005273974.2:c.1409C>T XP_005274031.1:p.Pro470Leu
XM_005273975.2:c.1292C>T XP_005274032.1:p.Pro431Leu
XM_011544994.1:c.1187C>T XP_011543296.1:p.Pro396Leu
XR_949903.1:n.2522C>T
XM_005273975.3:c.1292C>T XP_005274032.1:p.Pro431Leu
XM_017017669.2:c.1409C>T XP_016873158.1:p.Pro470Leu
XM_017017670.2:c.1409C>T XP_016873159.1:p.Pro470Leu
XR_949903.3:n.2518C>T
NM_002180.3:c.2420C>T MANE Select NP_002171.2:p.Pro807Leu