Canonical Allele Identifier: CA443108364
Gene: NSUN2 HGNC NCBI

Linked Data

dbSNP Id: rs2079755956
MyVariant Identifiers: chr5:g.6620290C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6620177C>T , CM000667.2:g.6620177C>T GRCh38
NC_000005.9:g.6620290C>T , CM000667.1:g.6620290C>T GRCh37
NC_000005.8:g.6673290C>T NCBI36
NG_028215.1:g.18184G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.744G>A MANE Select ENSP00000264670.6:p.Arg248=
ENST00000264670.10:c.744G>A ENSP00000264670.6:p.Arg248=
ENST00000504374.5:c.*50G>A ENSP00000421783.1:n.*50G>A
ENST00000505264.1:n.411G>A
ENST00000505892.5:n.1313G>A
ENST00000506139.5:c.639G>A ENSP00000420957.1:p.Arg213=
NM_001193455.1:c.639G>A NP_001180384.1:p.Arg213=
NM_017755.5:c.744G>A NP_060225.4:p.Arg248=
NR_037947.1:n.1040G>A
NM_017755.6:c.744G>A MANE Select NP_060225.4:p.Arg248=
NM_001193455.2:c.639G>A NP_001180384.1:p.Arg213=
NR_037947.2:n.724G>A