Canonical Allele Identifier: CA381649445
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933472A>G , CM000673.2:g.68933472A>G GRCh38
NC_000011.9:g.68700940A>G , CM000673.1:g.68700940A>G GRCh37
NC_000011.8:g.68457516A>G NCBI36
NG_007976.1:g.34622A>G , LRG_250:g.34622A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1409A>G MANE Select ENSP00000255078.4:p.His470Arg
ENST00000536803.2:n.320A>G
ENST00000674955.1:c.*126A>G ENSP00000502463.1:n.*126A>G
ENST00000675118.1:c.897A>G
ENST00000675205.1:n.174A>G
ENST00000675310.1:n.546A>G
ENST00000675615.1:c.1409A>G ENSP00000502413.1:p.His470Arg
ENST00000675648.1:n.784A>G
ENST00000675997.1:n.113-992A>G
ENST00000676149.1:n.483A>G
ENST00000676173.1:n.2154A>G
ENST00000676228.1:c.*732A>G ENSP00000502375.1:n.*732A>G
ENST00000255078.7:c.1409A>G ENSP00000255078.3:p.His470Arg
ENST00000537458.5:n.526A>G
ENST00000539064.5:n.1168A>G
ENST00000543739.5:n.526A>G
NM_002180.2:c.1409A>G , LRG_250t1:c.1409A>G NP_002171.2:p.His470Arg
XM_005273974.2:c.398A>G XP_005274031.1:p.His133Arg
XM_005273975.2:c.281A>G XP_005274032.1:p.His94Arg
XM_011544994.1:c.176A>G XP_011543296.1:p.His59Arg
XR_949903.1:n.1511A>G
XM_005273975.3:c.281A>G XP_005274032.1:p.His94Arg
XM_017017669.2:c.398A>G XP_016873158.1:p.His133Arg
XM_017017670.2:c.398A>G XP_016873159.1:p.His133Arg
XM_017017671.2:c.1409A>G XP_016873160.1:p.His470Arg
XR_949903.3:n.1507A>G
NM_002180.3:c.1409A>G MANE Select NP_002171.2:p.His470Arg