Canonical Allele Identifier: CA443101547

Gene: NSUN2

Linked Data

• dbSNP Id: rs1173648223
• gnomAD v2: 5-6611181-C-T
• gnomAD v3: 5-6611068-C-T
• gnomAD v4: 5-6611068-C-T
• MyVariant Identifiers: chr5:g.6611181C>T (hg19) ; chr5:g.6611068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6611068C>T , CM000667.2:g.6611068C>T	GRCh38
NC_000005.9:g.6611181C>T , CM000667.1:g.6611181C>T	GRCh37
NC_000005.8:g.6664181C>T	NCBI36
NG_028215.1:g.27293G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.1113G>A MANE Select	ENSP00000264670.6:p.Gly371=
ENST00000264670.10:c.1113G>A	ENSP00000264670.6:p.Gly371=
ENST00000504374.5:c.*419G>A	ENSP00000421783.1:n.*419G>A
ENST00000505892.5:n.1682G>A
ENST00000506139.5:c.1008G>A	ENSP00000420957.1:p.Gly336=
NM_001193455.1:c.1008G>A	NP_001180384.1:p.Gly336=
NM_017755.5:c.1113G>A	NP_060225.4:p.Gly371=
NR_037947.1:n.1409G>A
NM_017755.6:c.1113G>A MANE Select	NP_060225.4:p.Gly371=
NM_001193455.2:c.1008G>A	NP_001180384.1:p.Gly336=
NR_037947.2:n.1093G>A