Canonical Allele Identifier: CA813186245

Gene: NSUN2

Linked Data

• dbSNP Id: rs1354709537
• gnomAD v3: 5-6620050-C-A
• gnomAD v4: 5-6620050-C-A
• MyVariant Identifiers: chr5:g.6620163C>A (hg19) ; chr5:g.6620050C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620050C>A , CM000667.2:g.6620050C>A	GRCh38
NC_000005.9:g.6620163C>A , CM000667.1:g.6620163C>A	GRCh37
NC_000005.8:g.6673163C>A	NCBI36
NG_028215.1:g.18311G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+56G>T MANE Select	ENSP00000264670.6:n.815+56G>T
ENST00000264670.10:c.815+56G>T	ENSP00000264670.6:n.815+56G>T
ENST00000504374.5:c.*121+56G>T	ENSP00000421783.1:n.*121+56G>T
ENST00000505892.5:n.1384+56G>T
ENST00000506139.5:c.710+56G>T	ENSP00000420957.1:n.710+56G>T
NM_001193455.1:c.710+56G>T	NP_001180384.1:n.710+56G>T
NM_017755.5:c.815+56G>T	NP_060225.4:n.815+56G>T
NR_037947.1:n.1111+56G>T
NM_017755.6:c.815+56G>T MANE Select	NP_060225.4:n.815+56G>T
NM_001193455.2:c.710+56G>T	NP_001180384.1:n.710+56G>T
NR_037947.2:n.795+56G>T