Canonical Allele Identifier: CA359121583

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6611180G>T (hg19) ; chr5:g.6611067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6611067G>T , CM000667.2:g.6611067G>T	GRCh38
NC_000005.9:g.6611180G>T , CM000667.1:g.6611180G>T	GRCh37
NC_000005.8:g.6664180G>T	NCBI36
NG_028215.1:g.27294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.1114C>A MANE Select	ENSP00000264670.6:p.Gln372Lys
ENST00000264670.10:c.1114C>A	ENSP00000264670.6:p.Gln372Lys
ENST00000504374.5:c.*420C>A	ENSP00000421783.1:n.*420C>A
ENST00000505892.5:n.1683C>A
ENST00000506139.5:c.1009C>A	ENSP00000420957.1:p.Gln337Lys
NM_001193455.1:c.1009C>A	NP_001180384.1:p.Gln337Lys
NM_017755.5:c.1114C>A	NP_060225.4:p.Gln372Lys
NR_037947.1:n.1410C>A
NM_017755.6:c.1114C>A MANE Select	NP_060225.4:p.Gln372Lys
NM_001193455.2:c.1009C>A	NP_001180384.1:p.Gln337Lys
NR_037947.2:n.1094C>A