Canonical Allele Identifier: CA813186210

Gene: NSUN2

Linked Data

• dbSNP Id: rs1367546717
• gnomAD v3: 5-6619980-GCTAT-G
• gnomAD v4: 5-6619980-GCTAT-G
• MyVariant Identifiers: chr5:g.6620094_6620097del (hg19) ; chr5:g.6619981_6619984del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619983_6619986del , CM000667.2:g.6619983_6619986del	GRCh38
NC_000005.9:g.6620096_6620099del , CM000667.1:g.6620096_6620099del	GRCh37
NC_000005.8:g.6673096_6673099del	NCBI36
NG_028215.1:g.18377_18380del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+122_815+125del MANE Select	ENSP00000264670.6:n.815+122_815+125del
ENST00000264670.10:c.815+122_815+125del	ENSP00000264670.6:n.815+122_815+125del
ENST00000504374.5:c.*121+122_*121+125del	ENSP00000421783.1:n.*121+122_*121+125del
ENST00000505892.5:n.1384+122_1384+125del
ENST00000506139.5:c.710+122_710+125del	ENSP00000420957.1:n.710+122_710+125del
NM_001193455.1:c.710+122_710+125del	NP_001180384.1:n.710+122_710+125del
NM_017755.5:c.815+122_815+125del	NP_060225.4:n.815+122_815+125del
NR_037947.1:n.1111+122_1111+125del
NM_017755.6:c.815+122_815+125del MANE Select	NP_060225.4:n.815+122_815+125del
NM_001193455.2:c.710+122_710+125del	NP_001180384.1:n.710+122_710+125del
NR_037947.2:n.795+122_795+125del