Canonical Allele Identifier: CA1525232831
Gene: NSUN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6620164_6620168delinsCATCT , CM000667.2:g.6620164_6620168delinsCATCT GRCh38
NC_000005.9:g.6620277_6620281delinsCATCT , CM000667.1:g.6620277_6620281delinsCATCT GRCh37
NC_000005.8:g.6673277_6673281delinsCATCT NCBI36
NG_028215.1:g.18193_18197delinsAGATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.753_757delinsAGATG MANE Select ENSP00000264670.6:p.Ile251=
ENST00000264670.10:c.753_757delinsAGATG ENSP00000264670.6:p.Ile251=
ENST00000504374.5:c.*59_*63delinsAGATG ENSP00000421783.1:n.*59_*63delinsAGATG
ENST00000505264.1:n.420_424delinsAGATG
ENST00000505892.5:n.1322_1326delinsAGATG
ENST00000506139.5:c.648_652delinsAGATG ENSP00000420957.1:p.Ile216=
NM_001193455.1:c.648_652delinsAGATG NP_001180384.1:p.Ile216=
NM_017755.5:c.753_757delinsAGATG NP_060225.4:p.Ile251=
NR_037947.1:n.1049_1053delinsAGATG
NM_017755.6:c.753_757delinsAGATG MANE Select NP_060225.4:p.Ile251=
NM_001193455.2:c.648_652delinsAGATG NP_001180384.1:p.Ile216=
NR_037947.2:n.733_737delinsAGATG