Canonical Allele Identifier: CA359121588

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6611182C>G (hg19) ; chr5:g.6611069C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6611069C>G , CM000667.2:g.6611069C>G	GRCh38
NC_000005.9:g.6611182C>G , CM000667.1:g.6611182C>G	GRCh37
NC_000005.8:g.6664182C>G	NCBI36
NG_028215.1:g.27292G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264670.11:c.1112G>C MANE Select	ENSP00000264670.6:p.Gly371Ala
ENST00000264670.10:c.1112G>C	ENSP00000264670.6:p.Gly371Ala
ENST00000504374.5:c.*418G>C	ENSP00000421783.1:n.*418G>C
ENST00000505892.5:n.1681G>C
ENST00000506139.5:c.1007G>C	ENSP00000420957.1:p.Gly336Ala
NM_001193455.1:c.1007G>C	NP_001180384.1:p.Gly336Ala
NM_017755.5:c.1112G>C	NP_060225.4:p.Gly371Ala
NR_037947.1:n.1408G>C
NM_017755.6:c.1112G>C MANE Select	NP_060225.4:p.Gly371Ala
NM_001193455.2:c.1007G>C	NP_001180384.1:p.Gly336Ala
NR_037947.2:n.1092G>C