Canonical Allele Identifier: CA381652014
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936405A>G , CM000673.2:g.68936405A>G GRCh38
NC_000011.9:g.68703873A>G , CM000673.1:g.68703873A>G GRCh37
NC_000011.8:g.68460449A>G NCBI36
NG_007976.1:g.37555A>G , LRG_250:g.37555A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1925A>G MANE Select ENSP00000255078.4:p.Tyr642Cys
ENST00000674675.1:c.169A>G
ENST00000674878.1:c.169A>G
ENST00000674955.1:c.*642A>G ENSP00000502463.1:n.*642A>G
ENST00000675118.1:c.1413A>G
ENST00000675389.1:n.200A>G
ENST00000675615.1:c.1925A>G ENSP00000502413.1:p.Tyr642Cys
ENST00000675648.1:n.1300A>G
ENST00000675916.1:c.169A>G
ENST00000676173.1:n.2670A>G
ENST00000676182.1:c.356A>G
ENST00000676228.1:c.*1248A>G ENSP00000502375.1:n.*1248A>G
ENST00000255078.7:c.1925A>G ENSP00000255078.3:p.Tyr642Cys
ENST00000539064.5:n.1684A>G
ENST00000543739.5:n.918A>G
ENST00000545475.1:n.521A>G
NM_002180.2:c.1925A>G , LRG_250t1:c.1925A>G NP_002171.2:p.Tyr642Cys
XM_005273974.2:c.914A>G XP_005274031.1:p.Tyr305Cys
XM_005273975.2:c.797A>G XP_005274032.1:p.Tyr266Cys
XM_011544994.1:c.692A>G XP_011543296.1:p.Tyr231Cys
XR_949903.1:n.2027A>G
XM_005273975.3:c.797A>G XP_005274032.1:p.Tyr266Cys
XM_017017669.2:c.914A>G XP_016873158.1:p.Tyr305Cys
XM_017017670.2:c.914A>G XP_016873159.1:p.Tyr305Cys
XR_949903.3:n.2023A>G
NM_002180.3:c.1925A>G MANE Select NP_002171.2:p.Tyr642Cys