Canonical Allele Identifier: CA113737153

Gene: NSUN2

Linked Data

• dbSNP Id: rs528171235
• gnomAD v2: 5-6619985-T-C
• gnomAD v3: 5-6619872-T-C
• gnomAD v4: 5-6619872-T-C
• MyVariant Identifiers: chr5:g.6619985T>C (hg19) ; chr5:g.6619872T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619872T>C , CM000667.2:g.6619872T>C	GRCh38
NC_000005.9:g.6619985T>C , CM000667.1:g.6619985T>C	GRCh37
NC_000005.8:g.6672985T>C	NCBI36
NG_028215.1:g.18489A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+234A>G MANE Select	ENSP00000264670.6:n.815+234A>G
ENST00000264670.10:c.815+234A>G	ENSP00000264670.6:n.815+234A>G
ENST00000504374.5:c.*121+234A>G	ENSP00000421783.1:n.*121+234A>G
ENST00000505892.5:n.1384+234A>G
ENST00000506139.5:c.710+234A>G	ENSP00000420957.1:n.710+234A>G
NM_001193455.1:c.710+234A>G	NP_001180384.1:n.710+234A>G
NM_017755.5:c.815+234A>G	NP_060225.4:n.815+234A>G
NR_037947.1:n.1111+234A>G
NM_017755.6:c.815+234A>G MANE Select	NP_060225.4:n.815+234A>G
NM_001193455.2:c.710+234A>G	NP_001180384.1:n.710+234A>G
NR_037947.2:n.795+234A>G