Canonical Allele Identifier: CA381652016
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1925A>T MANE Select ENSP00000255078.4:p.Tyr642Phe
ENST00000674675.1:c.169A>T
ENST00000674878.1:c.169A>T
ENST00000674955.1:c.*642A>T ENSP00000502463.1:n.*642A>T
ENST00000675118.1:c.1413A>T
ENST00000675389.1:n.200A>T
ENST00000675615.1:c.1925A>T ENSP00000502413.1:p.Tyr642Phe
ENST00000675648.1:n.1300A>T
ENST00000675916.1:c.169A>T
ENST00000676173.1:n.2670A>T
ENST00000676182.1:c.356A>T
ENST00000676228.1:c.*1248A>T ENSP00000502375.1:n.*1248A>T
ENST00000255078.7:c.1925A>T ENSP00000255078.3:p.Tyr642Phe
ENST00000539064.5:n.1684A>T
ENST00000543739.5:n.918A>T
ENST00000545475.1:n.521A>T
NM_002180.2:c.1925A>T , LRG_250t1:c.1925A>T NP_002171.2:p.Tyr642Phe
XM_005273974.2:c.914A>T XP_005274031.1:p.Tyr305Phe
XM_005273975.2:c.797A>T XP_005274032.1:p.Tyr266Phe
XM_011544994.1:c.692A>T XP_011543296.1:p.Tyr231Phe
XR_949903.1:n.2027A>T
XM_005273975.3:c.797A>T XP_005274032.1:p.Tyr266Phe
XM_017017669.2:c.914A>T XP_016873158.1:p.Tyr305Phe
XM_017017670.2:c.914A>T XP_016873159.1:p.Tyr305Phe
XR_949903.3:n.2023A>T
NM_002180.3:c.1925A>T MANE Select NP_002171.2:p.Tyr642Phe