Canonical Allele Identifier: CA359125390

Gene: NSUN2

Linked Data

• gnomAD v4: 5-6620172-T-C
• MyVariant Identifiers: chr5:g.6620285T>C (hg19) ; chr5:g.6620172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620172T>C , CM000667.2:g.6620172T>C	GRCh38
NC_000005.9:g.6620285T>C , CM000667.1:g.6620285T>C	GRCh37
NC_000005.8:g.6673285T>C	NCBI36
NG_028215.1:g.18189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.749A>G MANE Select	ENSP00000264670.6:p.Gln250Arg
ENST00000264670.10:c.749A>G	ENSP00000264670.6:p.Gln250Arg
ENST00000504374.5:c.*55A>G	ENSP00000421783.1:n.*55A>G
ENST00000505264.1:n.416A>G
ENST00000505892.5:n.1318A>G
ENST00000506139.5:c.644A>G	ENSP00000420957.1:p.Gln215Arg
NM_001193455.1:c.644A>G	NP_001180384.1:p.Gln215Arg
NM_017755.5:c.749A>G	NP_060225.4:p.Gln250Arg
NR_037947.1:n.1045A>G
NM_017755.6:c.749A>G MANE Select	NP_060225.4:p.Gln250Arg
NM_001193455.2:c.644A>G	NP_001180384.1:p.Gln215Arg
NR_037947.2:n.729A>G