Canonical Allele Identifier: CA557619293

Gene: NSUN2

Linked Data

• dbSNP Id: rs1310111233
• gnomAD v2: 5-6620011-CCT-C
• gnomAD v3: 5-6619898-CCT-C
• gnomAD v4: 5-6619898-CCT-C
• MyVariant Identifiers: chr5:g.6620012_6620013del (hg19) ; chr5:g.6619899_6619900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.6619899_6619900del , CM000667.2:g.6619899_6619900del	GRCh38
NC_000005.9:g.6620012_6620013del , CM000667.1:g.6620012_6620013del	GRCh37
NC_000005.8:g.6673012_6673013del	NCBI36
NG_028215.1:g.18461_18462del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264670.11:c.815+206_815+207del MANE Select	ENSP00000264670.6:n.815+206_815+207del
ENST00000264670.10:c.815+206_815+207del	ENSP00000264670.6:n.815+206_815+207del
ENST00000504374.5:c.*121+206_*121+207del	ENSP00000421783.1:n.*121+206_*121+207del
ENST00000505892.5:n.1384+206_1384+207del
ENST00000506139.5:c.710+206_710+207del	ENSP00000420957.1:n.710+206_710+207del
NM_001193455.1:c.710+206_710+207del	NP_001180384.1:n.710+206_710+207del
NM_017755.5:c.815+206_815+207del	NP_060225.4:n.815+206_815+207del
NR_037947.1:n.1111+206_1111+207del
NM_017755.6:c.815+206_815+207del MANE Select	NP_060225.4:n.815+206_815+207del
NM_001193455.2:c.710+206_710+207del	NP_001180384.1:n.710+206_710+207del
NR_037947.2:n.795+206_795+207del