Canonical Allele Identifier: CA359121627

Gene: NSUN2

Linked Data

• ClinVar Variation Id: 3202410
• ClinVar RCV Id: RCV004493822
• dbSNP Id: rs1328515531
• gnomAD v4: 5-6611076-T-C
• MyVariant Identifiers: chr5:g.6611189T>C (hg19) ; chr5:g.6611076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6611076T>C , CM000667.2:g.6611076T>C	GRCh38
NC_000005.9:g.6611189T>C , CM000667.1:g.6611189T>C	GRCh37
NC_000005.8:g.6664189T>C	NCBI36
NG_028215.1:g.27285A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.1105A>G MANE Select	ENSP00000264670.6:p.Lys369Glu
ENST00000264670.10:c.1105A>G	ENSP00000264670.6:p.Lys369Glu
ENST00000504374.5:c.*411A>G	ENSP00000421783.1:n.*411A>G
ENST00000505892.5:n.1674A>G
ENST00000506139.5:c.1000A>G	ENSP00000420957.1:p.Lys334Glu
NM_001193455.1:c.1000A>G	NP_001180384.1:p.Lys334Glu
NM_017755.5:c.1105A>G	NP_060225.4:p.Lys369Glu
NR_037947.1:n.1401A>G
NM_017755.6:c.1105A>G MANE Select	NP_060225.4:p.Lys369Glu
NM_001193455.2:c.1000A>G	NP_001180384.1:p.Lys334Glu
NR_037947.2:n.1085A>G