Canonical Allele Identifier: CA2673162757
Gene: NSUN2 HGNC NCBI

Linked Data

gnomAD v4: 5-6619968-GT-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6619971del , CM000667.2:g.6619971del GRCh38
NC_000005.9:g.6620084del , CM000667.1:g.6620084del GRCh37
NC_000005.8:g.6673084del NCBI36
NG_028215.1:g.18392del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.815+137del MANE Select ENSP00000264670.6:n.815+137del
ENST00000264670.10:c.815+137del ENSP00000264670.6:n.815+137del
ENST00000504374.5:c.*121+137del ENSP00000421783.1:n.*121+137del
ENST00000505892.5:n.1384+137del
ENST00000506139.5:c.710+137del ENSP00000420957.1:n.710+137del
NM_001193455.1:c.710+137del NP_001180384.1:n.710+137del
NM_017755.5:c.815+137del NP_060225.4:n.815+137del
NR_037947.1:n.1111+137del
NM_017755.6:c.815+137del MANE Select NP_060225.4:n.815+137del
NM_001193455.2:c.710+137del NP_001180384.1:n.710+137del
NR_037947.2:n.795+137del