Canonical Allele Identifier: CA2673162902
Gene: NSUN2 HGNC NCBI

Linked Data

gnomAD v4: 5-6620007-AT-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6620008del , CM000667.2:g.6620008del GRCh38
NC_000005.9:g.6620121del , CM000667.1:g.6620121del GRCh37
NC_000005.8:g.6673121del NCBI36
NG_028215.1:g.18353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.815+98del MANE Select ENSP00000264670.6:n.815+98del
ENST00000264670.10:c.815+98del ENSP00000264670.6:n.815+98del
ENST00000504374.5:c.*121+98del ENSP00000421783.1:n.*121+98del
ENST00000505892.5:n.1384+98del
ENST00000506139.5:c.710+98del ENSP00000420957.1:n.710+98del
NM_001193455.1:c.710+98del NP_001180384.1:n.710+98del
NM_017755.5:c.815+98del NP_060225.4:n.815+98del
NR_037947.1:n.1111+98del
NM_017755.6:c.815+98del MANE Select NP_060225.4:n.815+98del
NM_001193455.2:c.710+98del NP_001180384.1:n.710+98del
NR_037947.2:n.795+98del