Canonical Allele Identifier: CA2673162928

Gene: NSUN2

Linked Data

• gnomAD v4: 5-6620053-TTTGACTTGATTTCTTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6620054_6620070del , CM000667.2:g.6620054_6620070del	GRCh38
NC_000005.9:g.6620167_6620183del , CM000667.1:g.6620167_6620183del	GRCh37
NC_000005.8:g.6673167_6673183del	NCBI36
NG_028215.1:g.18291_18307del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+36_815+52del MANE Select	ENSP00000264670.6:n.815+36_815+52del
ENST00000264670.10:c.815+36_815+52del	ENSP00000264670.6:n.815+36_815+52del
ENST00000504374.5:c.*121+36_*121+52del	ENSP00000421783.1:n.*121+36_*121+52del
ENST00000505892.5:n.1384+36_1384+52del
ENST00000506139.5:c.710+36_710+52del	ENSP00000420957.1:n.710+36_710+52del
NM_001193455.1:c.710+36_710+52del	NP_001180384.1:n.710+36_710+52del
NM_017755.5:c.815+36_815+52del	NP_060225.4:n.815+36_815+52del
NR_037947.1:n.1111+36_1111+52del
NM_017755.6:c.815+36_815+52del MANE Select	NP_060225.4:n.815+36_815+52del
NM_001193455.2:c.710+36_710+52del	NP_001180384.1:n.710+36_710+52del
NR_037947.2:n.795+36_795+52del