Canonical Allele Identifier: CA381653706
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936940G>C , CM000673.2:g.68936940G>C GRCh38
NC_000011.9:g.68704408G>C , CM000673.1:g.68704408G>C GRCh37
NC_000011.8:g.68460984G>C NCBI36
NG_007976.1:g.38090G>C , LRG_250:g.38090G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2460G>C MANE Select ENSP00000255078.4:p.Arg820Ser
ENST00000674675.1:c.605G>C
ENST00000674878.1:c.565G>C
ENST00000675118.1:c.1948G>C
ENST00000675389.1:n.735G>C
ENST00000675615.1:c.2460G>C ENSP00000502413.1:p.Arg820Ser
ENST00000675648.1:n.1835G>C
ENST00000675916.1:c.704G>C
ENST00000676173.1:n.3205G>C
ENST00000676182.1:c.891G>C
ENST00000676228.1:c.*1783G>C ENSP00000502375.1:n.*1783G>C
ENST00000255078.7:c.2460G>C ENSP00000255078.3:p.Arg820Ser
ENST00000539064.5:n.2219G>C
ENST00000543739.5:n.1453G>C
NM_002180.2:c.2460G>C , LRG_250t1:c.2460G>C NP_002171.2:p.Arg820Ser
XM_005273974.2:c.1449G>C XP_005274031.1:p.Arg483Ser
XM_005273975.2:c.1332G>C XP_005274032.1:p.Arg444Ser
XM_011544994.1:c.1227G>C XP_011543296.1:p.Arg409Ser
XR_949903.1:n.2562G>C
XM_005273975.3:c.1332G>C XP_005274032.1:p.Arg444Ser
XM_017017669.2:c.1449G>C XP_016873158.1:p.Arg483Ser
XM_017017670.2:c.1449G>C XP_016873159.1:p.Arg483Ser
XR_949903.3:n.2558G>C
NM_002180.3:c.2460G>C MANE Select NP_002171.2:p.Arg820Ser