Canonical Allele Identifier: CA557619315

Gene: NSUN2

Linked Data

• dbSNP Id: rs1330930257
• gnomAD v2: 5-6620179-C-A
• gnomAD v3: 5-6620066-C-A
• gnomAD v4: 5-6620066-C-A
• MyVariant Identifiers: chr5:g.6620179C>A (hg19) ; chr5:g.6620066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620066C>A , CM000667.2:g.6620066C>A	GRCh38
NC_000005.9:g.6620179C>A , CM000667.1:g.6620179C>A	GRCh37
NC_000005.8:g.6673179C>A	NCBI36
NG_028215.1:g.18295G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+40G>T MANE Select	ENSP00000264670.6:n.815+40G>T
ENST00000264670.10:c.815+40G>T	ENSP00000264670.6:n.815+40G>T
ENST00000504374.5:c.*121+40G>T	ENSP00000421783.1:n.*121+40G>T
ENST00000505892.5:n.1384+40G>T
ENST00000506139.5:c.710+40G>T	ENSP00000420957.1:n.710+40G>T
NM_001193455.1:c.710+40G>T	NP_001180384.1:n.710+40G>T
NM_017755.5:c.815+40G>T	NP_060225.4:n.815+40G>T
NR_037947.1:n.1111+40G>T
NM_017755.6:c.815+40G>T MANE Select	NP_060225.4:n.815+40G>T
NM_001193455.2:c.710+40G>T	NP_001180384.1:n.710+40G>T
NR_037947.2:n.795+40G>T