Canonical Allele Identifier: CA443108350

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620287G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620174G>A , CM000667.2:g.6620174G>A	GRCh38
NC_000005.9:g.6620287G>A , CM000667.1:g.6620287G>A	GRCh37
NC_000005.8:g.6673287G>A	NCBI36
NG_028215.1:g.18187C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.747C>T MANE Select	ENSP00000264670.6:p.Leu249=
ENST00000264670.10:c.747C>T	ENSP00000264670.6:p.Leu249=
ENST00000504374.5:c.*53C>T	ENSP00000421783.1:n.*53C>T
ENST00000505264.1:n.414C>T
ENST00000505892.5:n.1316C>T
ENST00000506139.5:c.642C>T	ENSP00000420957.1:p.Leu214=
NM_001193455.1:c.642C>T	NP_001180384.1:p.Leu214=
NM_017755.5:c.747C>T	NP_060225.4:p.Leu249=
NR_037947.1:n.1043C>T
NM_017755.6:c.747C>T MANE Select	NP_060225.4:p.Leu249=
NM_001193455.2:c.642C>T	NP_001180384.1:p.Leu214=
NR_037947.2:n.727C>T