Canonical Allele Identifier: CA443108374

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620292T>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.742A>C MANE Select	ENSP00000264670.6:p.Arg248=
ENST00000264670.10:c.742A>C	ENSP00000264670.6:p.Arg248=
ENST00000504374.5:c.*48A>C	ENSP00000421783.1:n.*48A>C
ENST00000505264.1:n.409A>C
ENST00000505892.5:n.1311A>C
ENST00000506139.5:c.637A>C	ENSP00000420957.1:p.Arg213=
NM_001193455.1:c.637A>C	NP_001180384.1:p.Arg213=
NM_017755.5:c.742A>C	NP_060225.4:p.Arg248=
NR_037947.1:n.1038A>C
NM_017755.6:c.742A>C MANE Select	NP_060225.4:p.Arg248=
NM_001193455.2:c.637A>C	NP_001180384.1:p.Arg213=
NR_037947.2:n.722A>C