Canonical Allele Identifier: CA813186192
Gene: NSUN2 HGNC NCBI

Linked Data

dbSNP Id: rs1223521175
gnomAD v3: 5-6619946-G-GT
gnomAD v4: 5-6619946-G-GT
MyVariant Identifiers: chr5:g.6620059_6620060insT (hg19) chr5:g.6619946_6619947insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6619947dup , CM000667.2:g.6619947dup GRCh38
NC_000005.9:g.6620060dup , CM000667.1:g.6620060dup GRCh37
NC_000005.8:g.6673060dup NCBI36
NG_028215.1:g.18414dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.815+159dup MANE Select ENSP00000264670.6:n.815+159dup
ENST00000264670.10:c.815+159dup ENSP00000264670.6:n.815+159dup
ENST00000504374.5:c.*121+159dup ENSP00000421783.1:n.*121+159dup
ENST00000505892.5:n.1384+159dup
ENST00000506139.5:c.710+159dup ENSP00000420957.1:n.710+159dup
NM_001193455.1:c.710+159dup NP_001180384.1:n.710+159dup
NM_017755.5:c.815+159dup NP_060225.4:n.815+159dup
NR_037947.1:n.1111+159dup
NM_017755.6:c.815+159dup MANE Select NP_060225.4:n.815+159dup
NM_001193455.2:c.710+159dup NP_001180384.1:n.710+159dup
NR_037947.2:n.795+159dup
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