Canonical Allele Identifier: CA359125432

Gene: NSUN2

Linked Data

• gnomAD v4: 5-6620179-T-C
• MyVariant Identifiers: chr5:g.6620292T>C (hg19) ; chr5:g.6620179T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620179T>C , CM000667.2:g.6620179T>C	GRCh38
NC_000005.9:g.6620292T>C , CM000667.1:g.6620292T>C	GRCh37
NC_000005.8:g.6673292T>C	NCBI36
NG_028215.1:g.18182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.742A>G MANE Select	ENSP00000264670.6:p.Arg248Gly
ENST00000264670.10:c.742A>G	ENSP00000264670.6:p.Arg248Gly
ENST00000504374.5:c.*48A>G	ENSP00000421783.1:n.*48A>G
ENST00000505264.1:n.409A>G
ENST00000505892.5:n.1311A>G
ENST00000506139.5:c.637A>G	ENSP00000420957.1:p.Arg213Gly
NM_001193455.1:c.637A>G	NP_001180384.1:p.Arg213Gly
NM_017755.5:c.742A>G	NP_060225.4:p.Arg248Gly
NR_037947.1:n.1038A>G
NM_017755.6:c.742A>G MANE Select	NP_060225.4:p.Arg248Gly
NM_001193455.2:c.637A>G	NP_001180384.1:p.Arg213Gly
NR_037947.2:n.722A>G