Canonical Allele Identifier: CA359125404

Gene: NSUN2

Linked Data

• dbSNP Id: rs1208970748
• gnomAD v4: 5-6620175-A-G
• MyVariant Identifiers: chr5:g.6620288A>G (hg19) ; chr5:g.6620175A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620175A>G , CM000667.2:g.6620175A>G	GRCh38
NC_000005.9:g.6620288A>G , CM000667.1:g.6620288A>G	GRCh37
NC_000005.8:g.6673288A>G	NCBI36
NG_028215.1:g.18186T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.746T>C MANE Select	ENSP00000264670.6:p.Leu249Pro
ENST00000264670.10:c.746T>C	ENSP00000264670.6:p.Leu249Pro
ENST00000504374.5:c.*52T>C	ENSP00000421783.1:n.*52T>C
ENST00000505264.1:n.413T>C
ENST00000505892.5:n.1315T>C
ENST00000506139.5:c.641T>C	ENSP00000420957.1:p.Leu214Pro
NM_001193455.1:c.641T>C	NP_001180384.1:p.Leu214Pro
NM_017755.5:c.746T>C	NP_060225.4:p.Leu249Pro
NR_037947.1:n.1042T>C
NM_017755.6:c.746T>C MANE Select	NP_060225.4:p.Leu249Pro
NM_001193455.2:c.641T>C	NP_001180384.1:p.Leu214Pro
NR_037947.2:n.726T>C