Canonical Allele Identifier: CA1525232631
Gene: NSUN2 HGNC NCBI

Linked Data

dbSNP Id: rs897357396
gnomAD v4: 5-6620008-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6620008T>G , CM000667.2:g.6620008T>G GRCh38
NC_000005.9:g.6620121T>G , CM000667.1:g.6620121T>G GRCh37
NC_000005.8:g.6673121T>G NCBI36
NG_028215.1:g.18353A>C

Transcript Alleles

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