Canonical Allele Identifier: CA431262054
Gene: NHEJ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.220011429A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219146707A>G , CM000664.2:g.219146707A>G GRCh38
NC_000002.11:g.220011429A>G , CM000664.1:g.220011429A>G GRCh37
NC_000002.10:g.219719673A>G NCBI36
NG_007880.1:g.19159T>C , LRG_90:g.19159T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000426304.6:c.561T>C ENSP00000394896.2:p.Asn187=
ENST00000457600.3:c.561T>C ENSP00000407201.2:p.Asn187=
ENST00000698174.1:c.561T>C ENSP00000513594.1:p.Asn187=
ENST00000698175.1:c.*308T>C ENSP00000513595.1:n.*308T>C
ENST00000698176.1:n.633T>C
ENST00000698202.1:c.561T>C ENSP00000513605.1:p.Asn187=
ENST00000698203.1:c.561T>C ENSP00000513606.1:p.Asn187=
ENST00000356853.10:c.561T>C MANE Select ENSP00000349313.5:p.Asn187=
ENST00000318673.6:c.*1683T>C ENSP00000320919.3:n.*1683T>C
ENST00000356853.9:c.561T>C ENSP00000349313.5:p.Asn187=
ENST00000409720.5:c.561T>C ENSP00000387290.1:p.Asn187=
ENST00000418099.5:c.561T>C ENSP00000408966.1:p.Asn187=
ENST00000426304.5:c.321T>C ENSP00000394896.1:p.Asn107=
ENST00000450447.1:c.*248T>C ENSP00000408421.1:n.*248T>C
ENST00000457600.2:c.561T>C ENSP00000407201.1:p.Asn187=
ENST00000498327.5:n.2749T>C
NM_024782.2:c.561T>C , LRG_90t1:c.561T>C NP_079058.1:p.Asn187=
NM_001377498.1:c.561T>C NP_001364427.1:p.Asn187=
NM_001377499.1:c.561T>C NP_001364428.1:p.Asn187=
NM_024782.3:c.561T>C MANE Select NP_079058.1:p.Asn187=
NR_165304.1:n.657T>C