Canonical Allele Identifier: CA1072898872

Gene: NSUN2

Linked Data

• dbSNP Id: rs1737368949
• gnomAD v3: 5-6619977-C-T
• gnomAD v4: 5-6619977-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619977C>T , CM000667.2:g.6619977C>T	GRCh38
NC_000005.9:g.6620090C>T , CM000667.1:g.6620090C>T	GRCh37
NC_000005.8:g.6673090C>T	NCBI36
NG_028215.1:g.18384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+129G>A MANE Select	ENSP00000264670.6:n.815+129G>A
ENST00000264670.10:c.815+129G>A	ENSP00000264670.6:n.815+129G>A
ENST00000504374.5:c.*121+129G>A	ENSP00000421783.1:n.*121+129G>A
ENST00000505892.5:n.1384+129G>A
ENST00000506139.5:c.710+129G>A	ENSP00000420957.1:n.710+129G>A
NM_001193455.1:c.710+129G>A	NP_001180384.1:n.710+129G>A
NM_017755.5:c.815+129G>A	NP_060225.4:n.815+129G>A
NR_037947.1:n.1111+129G>A
NM_017755.6:c.815+129G>A MANE Select	NP_060225.4:n.815+129G>A
NM_001193455.2:c.710+129G>A	NP_001180384.1:n.710+129G>A
NR_037947.2:n.795+129G>A