Canonical Allele Identifier: CA359125395

Gene: NSUN2

Linked Data

• MyVariant Identifiers: chr5:g.6620286G>A (hg19) ; chr5:g.6620173G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620173G>A , CM000667.2:g.6620173G>A	GRCh38
NC_000005.9:g.6620286G>A , CM000667.1:g.6620286G>A	GRCh37
NC_000005.8:g.6673286G>A	NCBI36
NG_028215.1:g.18188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.748C>T MANE Select	ENSP00000264670.6:p.Gln250Ter
ENST00000264670.10:c.748C>T	ENSP00000264670.6:p.Gln250Ter
ENST00000504374.5:c.*54C>T	ENSP00000421783.1:n.*54C>T
ENST00000505264.1:n.415C>T
ENST00000505892.5:n.1317C>T
ENST00000506139.5:c.643C>T	ENSP00000420957.1:p.Gln215Ter
NM_001193455.1:c.643C>T	NP_001180384.1:p.Gln215Ter
NM_017755.5:c.748C>T	NP_060225.4:p.Gln250Ter
NR_037947.1:n.1044C>T
NM_017755.6:c.748C>T MANE Select	NP_060225.4:p.Gln250Ter
NM_001193455.2:c.643C>T	NP_001180384.1:p.Gln215Ter
NR_037947.2:n.728C>T