Canonical Allele Identifier: CA431262068

Gene: NHEJ1

Linked Data

• MyVariant Identifiers: chr2:g.220011450C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146728C>T , CM000664.2:g.219146728C>T	GRCh38
NC_000002.11:g.220011450C>T , CM000664.1:g.220011450C>T	GRCh37
NC_000002.10:g.219719694C>T	NCBI36
NG_007880.1:g.19138G>A , LRG_90:g.19138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.540G>A	ENSP00000394896.2:p.Lys180=
ENST00000457600.3:c.540G>A	ENSP00000407201.2:p.Lys180=
ENST00000698174.1:c.540G>A	ENSP00000513594.1:p.Lys180=
ENST00000698175.1:c.*287G>A	ENSP00000513595.1:n.*287G>A
ENST00000698176.1:n.612G>A
ENST00000698202.1:c.540G>A	ENSP00000513605.1:p.Lys180=
ENST00000698203.1:c.540G>A	ENSP00000513606.1:p.Lys180=
ENST00000356853.10:c.540G>A MANE Select	ENSP00000349313.5:p.Lys180=
ENST00000318673.6:c.*1662G>A	ENSP00000320919.3:n.*1662G>A
ENST00000356853.9:c.540G>A	ENSP00000349313.5:p.Lys180=
ENST00000409720.5:c.540G>A	ENSP00000387290.1:p.Lys180=
ENST00000418099.5:c.540G>A	ENSP00000408966.1:p.Lys180=
ENST00000426304.5:c.300G>A	ENSP00000394896.1:p.Lys100=
ENST00000450447.1:c.*227G>A	ENSP00000408421.1:n.*227G>A
ENST00000457600.2:c.540G>A	ENSP00000407201.1:p.Lys180=
ENST00000498327.5:n.2728G>A
NM_024782.2:c.540G>A , LRG_90t1:c.540G>A	NP_079058.1:p.Lys180=
NM_001377498.1:c.540G>A	NP_001364427.1:p.Lys180=
NM_001377499.1:c.540G>A	NP_001364428.1:p.Lys180=
NM_024782.3:c.540G>A MANE Select	NP_079058.1:p.Lys180=
NR_165304.1:n.636G>A