Canonical Allele Identifier: CA443108380

Gene: NSUN2

Linked Data

• gnomAD v4: 5-6620180-G-C
• MyVariant Identifiers: chr5:g.6620293G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620180G>C , CM000667.2:g.6620180G>C	GRCh38
NC_000005.9:g.6620293G>C , CM000667.1:g.6620293G>C	GRCh37
NC_000005.8:g.6673293G>C	NCBI36
NG_028215.1:g.18181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.741C>G MANE Select	ENSP00000264670.6:p.Pro247=
ENST00000264670.10:c.741C>G	ENSP00000264670.6:p.Pro247=
ENST00000504374.5:c.*47C>G	ENSP00000421783.1:n.*47C>G
ENST00000505264.1:n.408C>G
ENST00000505892.5:n.1310C>G
ENST00000506139.5:c.636C>G	ENSP00000420957.1:p.Pro212=
NM_001193455.1:c.636C>G	NP_001180384.1:p.Pro212=
NM_017755.5:c.741C>G	NP_060225.4:p.Pro247=
NR_037947.1:n.1037C>G
NM_017755.6:c.741C>G MANE Select	NP_060225.4:p.Pro247=
NM_001193455.2:c.636C>G	NP_001180384.1:p.Pro212=
NR_037947.2:n.721C>G