Canonical Allele Identifier: CA2116948

Gene: NHEJ1

Linked Data

• dbSNP Id: rs760675346
• ExAC: 2:220011456 T / C
• gnomAD v2: 2-220011456-T-C
• gnomAD v3: 2-219146734-T-C
• gnomAD v4: 2-219146734-T-C
• MyVariant Identifiers: chr2:g.220011456T>C (hg19) ; chr2:g.219146734T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146734T>C , CM000664.2:g.219146734T>C	GRCh38
NC_000002.11:g.220011456T>C , CM000664.1:g.220011456T>C	GRCh37
NC_000002.10:g.219719700T>C	NCBI36
NG_007880.1:g.19132A>G , LRG_90:g.19132A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426304.6:c.534A>G	ENSP00000394896.2:p.Arg178=
ENST00000457600.3:c.534A>G	ENSP00000407201.2:p.Arg178=
ENST00000698174.1:c.534A>G	ENSP00000513594.1:p.Arg178=
ENST00000698175.1:c.*281A>G	ENSP00000513595.1:n.*281A>G
ENST00000698176.1:n.606A>G
ENST00000698202.1:c.534A>G	ENSP00000513605.1:p.Arg178=
ENST00000698203.1:c.534A>G	ENSP00000513606.1:p.Arg178=
ENST00000356853.10:c.534A>G MANE Select	ENSP00000349313.5:p.Arg178=
ENST00000318673.6:c.*1656A>G	ENSP00000320919.3:n.*1656A>G
ENST00000356853.9:c.534A>G	ENSP00000349313.5:p.Arg178=
ENST00000409720.5:c.534A>G	ENSP00000387290.1:p.Arg178=
ENST00000418099.5:c.534A>G	ENSP00000408966.1:p.Arg178=
ENST00000426304.5:c.294A>G	ENSP00000394896.1:p.Arg98=
ENST00000450447.1:c.*221A>G	ENSP00000408421.1:n.*221A>G
ENST00000457600.2:c.534A>G	ENSP00000407201.1:p.Arg178=
ENST00000498327.5:n.2722A>G
NM_024782.2:c.534A>G , LRG_90t1:c.534A>G	NP_079058.1:p.Arg178=
NM_001377498.1:c.534A>G	NP_001364427.1:p.Arg178=
NM_001377499.1:c.534A>G	NP_001364428.1:p.Arg178=
NM_024782.3:c.534A>G MANE Select	NP_079058.1:p.Arg178=
NR_165304.1:n.630A>G