Canonical Allele Identifier: CA359125367

Gene: NSUN2

Linked Data

• gnomAD v4: 5-6620169-A-G
• MyVariant Identifiers: chr5:g.6620282A>G (hg19) ; chr5:g.6620169A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620169A>G , CM000667.2:g.6620169A>G	GRCh38
NC_000005.9:g.6620282A>G , CM000667.1:g.6620282A>G	GRCh37
NC_000005.8:g.6673282A>G	NCBI36
NG_028215.1:g.18192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.752T>C MANE Select	ENSP00000264670.6:p.Ile251Thr
ENST00000264670.10:c.752T>C	ENSP00000264670.6:p.Ile251Thr
ENST00000504374.5:c.*58T>C	ENSP00000421783.1:n.*58T>C
ENST00000505264.1:n.419T>C
ENST00000505892.5:n.1321T>C
ENST00000506139.5:c.647T>C	ENSP00000420957.1:p.Ile216Thr
NM_001193455.1:c.647T>C	NP_001180384.1:p.Ile216Thr
NM_017755.5:c.752T>C	NP_060225.4:p.Ile251Thr
NR_037947.1:n.1048T>C
NM_017755.6:c.752T>C MANE Select	NP_060225.4:p.Ile251Thr
NM_001193455.2:c.647T>C	NP_001180384.1:p.Ile216Thr
NR_037947.2:n.732T>C