Canonical Allele Identifier: CA11960420

Gene: NSUN2

Linked Data

• ClinVar Variation Id: 1274640
• ClinVar RCV Id: RCV001687212
• dbSNP Id: rs2288445
• gnomAD v2: 5-6620092-C-T
• gnomAD v3: 5-6619979-C-T
• gnomAD v4: 5-6619979-C-T
• MyVariant Identifiers: chr5:g.6620092C>T (hg19) ; chr5:g.6619979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619979C>T , CM000667.2:g.6619979C>T	GRCh38
NC_000005.9:g.6620092C>T , CM000667.1:g.6620092C>T	GRCh37
NC_000005.8:g.6673092C>T	NCBI36
NG_028215.1:g.18382G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+127G>A MANE Select	ENSP00000264670.6:n.815+127G>A
ENST00000264670.10:c.815+127G>A	ENSP00000264670.6:n.815+127G>A
ENST00000504374.5:c.*121+127G>A	ENSP00000421783.1:n.*121+127G>A
ENST00000505892.5:n.1384+127G>A
ENST00000506139.5:c.710+127G>A	ENSP00000420957.1:n.710+127G>A
NM_001193455.1:c.710+127G>A	NP_001180384.1:n.710+127G>A
NM_017755.5:c.815+127G>A	NP_060225.4:n.815+127G>A
NR_037947.1:n.1111+127G>A
NM_017755.6:c.815+127G>A MANE Select	NP_060225.4:n.815+127G>A
NM_001193455.2:c.710+127G>A	NP_001180384.1:n.710+127G>A
NR_037947.2:n.795+127G>A