Canonical Allele Identifier: CA443101587

Gene: NSUN2

Linked Data

• ClinVar Variation Id: 1908959
• ClinVar RCV Id: RCV002596849
• dbSNP Id: rs1395934240
• gnomAD v2: 5-6611190-C-A
• gnomAD v3: 5-6611077-C-A
• gnomAD v4: 5-6611077-C-A
• MyVariant Identifiers: chr5:g.6611190C>A (hg19) ; chr5:g.6611077C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6611077C>A , CM000667.2:g.6611077C>A	GRCh38
NC_000005.9:g.6611190C>A , CM000667.1:g.6611190C>A	GRCh37
NC_000005.8:g.6664190C>A	NCBI36
NG_028215.1:g.27284G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264670.11:c.1104G>T MANE Select	ENSP00000264670.6:p.Thr368=
ENST00000264670.10:c.1104G>T	ENSP00000264670.6:p.Thr368=
ENST00000504374.5:c.*410G>T	ENSP00000421783.1:n.*410G>T
ENST00000505892.5:n.1673G>T
ENST00000506139.5:c.999G>T	ENSP00000420957.1:p.Thr333=
NM_001193455.1:c.999G>T	NP_001180384.1:p.Thr333=
NM_017755.5:c.1104G>T	NP_060225.4:p.Thr368=
NR_037947.1:n.1400G>T
NM_017755.6:c.1104G>T MANE Select	NP_060225.4:p.Thr368=
NM_001193455.2:c.999G>T	NP_001180384.1:p.Thr333=
NR_037947.2:n.1084G>T