Canonical Allele Identifier: CA557619295
Gene: NSUN2 HGNC NCBI

Linked Data

dbSNP Id: rs1350838329
gnomAD v2: 5-6620021-C-T
MyVariant Identifiers: chr5:g.6620021C>T (hg19) chr5:g.6619908C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.6619908C>T , CM000667.2:g.6619908C>T GRCh38
NC_000005.9:g.6620021C>T , CM000667.1:g.6620021C>T GRCh37
NC_000005.8:g.6673021C>T NCBI36
NG_028215.1:g.18453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264670.11:c.815+198G>A MANE Select ENSP00000264670.6:n.815+198G>A
ENST00000264670.10:c.815+198G>A ENSP00000264670.6:n.815+198G>A
ENST00000504374.5:c.*121+198G>A ENSP00000421783.1:n.*121+198G>A
ENST00000505892.5:n.1384+198G>A
ENST00000506139.5:c.710+198G>A ENSP00000420957.1:n.710+198G>A
NM_001193455.1:c.710+198G>A NP_001180384.1:n.710+198G>A
NM_017755.5:c.815+198G>A NP_060225.4:n.815+198G>A
NR_037947.1:n.1111+198G>A
NM_017755.6:c.815+198G>A MANE Select NP_060225.4:n.815+198G>A
NM_001193455.2:c.710+198G>A NP_001180384.1:n.710+198G>A
NR_037947.2:n.795+198G>A
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