Canonical Allele Identifier: CA557619296

Gene: NSUN2

Linked Data

• dbSNP Id: rs1227520256
• gnomAD v2: 5-6620027-C-G
• gnomAD v3: 5-6619914-C-G
• gnomAD v4: 5-6619914-C-G
• MyVariant Identifiers: chr5:g.6620027C>G (hg19) ; chr5:g.6619914C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619914C>G , CM000667.2:g.6619914C>G	GRCh38
NC_000005.9:g.6620027C>G , CM000667.1:g.6620027C>G	GRCh37
NC_000005.8:g.6673027C>G	NCBI36
NG_028215.1:g.18447G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+192G>C MANE Select	ENSP00000264670.6:n.815+192G>C
ENST00000264670.10:c.815+192G>C	ENSP00000264670.6:n.815+192G>C
ENST00000504374.5:c.*121+192G>C	ENSP00000421783.1:n.*121+192G>C
ENST00000505892.5:n.1384+192G>C
ENST00000506139.5:c.710+192G>C	ENSP00000420957.1:n.710+192G>C
NM_001193455.1:c.710+192G>C	NP_001180384.1:n.710+192G>C
NM_017755.5:c.815+192G>C	NP_060225.4:n.815+192G>C
NR_037947.1:n.1111+192G>C
NM_017755.6:c.815+192G>C MANE Select	NP_060225.4:n.815+192G>C
NM_001193455.2:c.710+192G>C	NP_001180384.1:n.710+192G>C
NR_037947.2:n.795+192G>C