Canonical Allele Identifier: CA359121619

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6611188T>A (hg19) ; chr5:g.6611075T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6611075T>A , CM000667.2:g.6611075T>A	GRCh38
NC_000005.9:g.6611188T>A , CM000667.1:g.6611188T>A	GRCh37
NC_000005.8:g.6664188T>A	NCBI36
NG_028215.1:g.27286A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264670.11:c.1106A>T MANE Select	ENSP00000264670.6:p.Lys369Ile
ENST00000264670.10:c.1106A>T	ENSP00000264670.6:p.Lys369Ile
ENST00000504374.5:c.*412A>T	ENSP00000421783.1:n.*412A>T
ENST00000505892.5:n.1675A>T
ENST00000506139.5:c.1001A>T	ENSP00000420957.1:p.Lys334Ile
NM_001193455.1:c.1001A>T	NP_001180384.1:p.Lys334Ile
NM_017755.5:c.1106A>T	NP_060225.4:p.Lys369Ile
NR_037947.1:n.1402A>T
NM_017755.6:c.1106A>T MANE Select	NP_060225.4:p.Lys369Ile
NM_001193455.2:c.1001A>T	NP_001180384.1:p.Lys334Ile
NR_037947.2:n.1086A>T