Canonical Allele Identifier: CA2578311970
Gene: NSUN2 HGNC NCBI

Linked Data

gnomAD v4: 5-6620033-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6620033C>A , CM000667.2:g.6620033C>A GRCh38
NC_000005.9:g.6620146C>A , CM000667.1:g.6620146C>A GRCh37
NC_000005.8:g.6673146C>A NCBI36
NG_028215.1:g.18328G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.815+73G>T MANE Select ENSP00000264670.6:n.815+73G>T
ENST00000264670.10:c.815+73G>T ENSP00000264670.6:n.815+73G>T
ENST00000504374.5:c.*121+73G>T ENSP00000421783.1:n.*121+73G>T
ENST00000505892.5:n.1384+73G>T
ENST00000506139.5:c.710+73G>T ENSP00000420957.1:n.710+73G>T
NM_001193455.1:c.710+73G>T NP_001180384.1:n.710+73G>T
NM_017755.5:c.815+73G>T NP_060225.4:n.815+73G>T
NR_037947.1:n.1111+73G>T
NM_017755.6:c.815+73G>T MANE Select NP_060225.4:n.815+73G>T
NM_001193455.2:c.710+73G>T NP_001180384.1:n.710+73G>T
NR_037947.2:n.795+73G>T