Canonical Allele Identifier: CA813186177

Gene: NSUN2

Linked Data

• dbSNP Id: rs1425875694
• gnomAD v3: 5-6619889-G-A
• gnomAD v4: 5-6619889-G-A
• MyVariant Identifiers: chr5:g.6620002G>A (hg19) ; chr5:g.6619889G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619889G>A , CM000667.2:g.6619889G>A	GRCh38
NC_000005.9:g.6620002G>A , CM000667.1:g.6620002G>A	GRCh37
NC_000005.8:g.6673002G>A	NCBI36
NG_028215.1:g.18472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+217C>T MANE Select	ENSP00000264670.6:n.815+217C>T
ENST00000264670.10:c.815+217C>T	ENSP00000264670.6:n.815+217C>T
ENST00000504374.5:c.*121+217C>T	ENSP00000421783.1:n.*121+217C>T
ENST00000505892.5:n.1384+217C>T
ENST00000506139.5:c.710+217C>T	ENSP00000420957.1:n.710+217C>T
NM_001193455.1:c.710+217C>T	NP_001180384.1:n.710+217C>T
NM_017755.5:c.815+217C>T	NP_060225.4:n.815+217C>T
NR_037947.1:n.1111+217C>T
NM_017755.6:c.815+217C>T MANE Select	NP_060225.4:n.815+217C>T
NM_001193455.2:c.710+217C>T	NP_001180384.1:n.710+217C>T
NR_037947.2:n.795+217C>T