Canonical Allele Identifier: CA645294036
Gene: NSUN2 HGNC NCBI

Linked Data

dbSNP Id: rs1085307745
MyVariant Identifiers: chr5:g.6620278_6620281del (hg19) chr5:g.6620165_6620168del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6620169_6620172del , CM000667.2:g.6620169_6620172del GRCh38
NC_000005.9:g.6620282_6620285del , CM000667.1:g.6620282_6620285del GRCh37
NC_000005.8:g.6673282_6673285del NCBI36
NG_028215.1:g.18193_18196del

Transcript Alleles

HGVS Amino-acid change
ENST00000264670.11:c.753_756del MANE Select ENSP00000264670.6:p.Ile251MetfsTer26
ENST00000264670.10:c.753_756del ENSP00000264670.6:p.Ile251MetfsTer26
ENST00000504374.5:c.*59_*62del ENSP00000421783.1:n.*59_*62del
ENST00000505264.1:n.420_423del
ENST00000505892.5:n.1322_1325del
ENST00000506139.5:c.648_651del ENSP00000420957.1:p.Ile216MetfsTer26
NM_001193455.1:c.648_651del NP_001180384.1:p.Ile216MetfsTer26
NM_017755.5:c.753_756del NP_060225.4:p.Ile251MetfsTer26
NR_037947.1:n.1049_1052del
NM_017755.6:c.753_756del MANE Select NP_060225.4:p.Ile251MetfsTer26
NM_001193455.2:c.648_651del NP_001180384.1:p.Ile216MetfsTer26
NR_037947.2:n.733_736del
Search 100 bp 5'
Search 100 bp 3'