Canonical Allele Identifier: CA381653500
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936876C>G , CM000673.2:g.68936876C>G GRCh38
NC_000011.9:g.68704344C>G , CM000673.1:g.68704344C>G GRCh37
NC_000011.8:g.68460920C>G NCBI36
NG_007976.1:g.38026C>G , LRG_250:g.38026C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2396C>G MANE Select ENSP00000255078.4:p.Thr799Ser
ENST00000674675.1:c.588-47C>G
ENST00000674878.1:c.548-47C>G
ENST00000675118.1:c.1884C>G
ENST00000675389.1:n.671C>G
ENST00000675615.1:c.2396C>G ENSP00000502413.1:p.Thr799Ser
ENST00000675648.1:n.1771C>G
ENST00000675916.1:c.640C>G
ENST00000676173.1:n.3141C>G
ENST00000676182.1:c.827C>G
ENST00000676228.1:c.*1719C>G ENSP00000502375.1:n.*1719C>G
ENST00000255078.7:c.2396C>G ENSP00000255078.3:p.Thr799Ser
ENST00000539064.5:n.2155C>G
ENST00000543739.5:n.1389C>G
NM_002180.2:c.2396C>G , LRG_250t1:c.2396C>G NP_002171.2:p.Thr799Ser
XM_005273974.2:c.1385C>G XP_005274031.1:p.Thr462Ser
XM_005273975.2:c.1268C>G XP_005274032.1:p.Thr423Ser
XM_011544994.1:c.1163C>G XP_011543296.1:p.Thr388Ser
XR_949903.1:n.2498C>G
XM_005273975.3:c.1268C>G XP_005274032.1:p.Thr423Ser
XM_017017669.2:c.1385C>G XP_016873158.1:p.Thr462Ser
XM_017017670.2:c.1385C>G XP_016873159.1:p.Thr462Ser
XR_949903.3:n.2494C>G
NM_002180.3:c.2396C>G MANE Select NP_002171.2:p.Thr799Ser