Canonical Allele Identifier: CA539622761

Gene: NHEJ1

Linked Data

• dbSNP Id: rs1376611240
• gnomAD v2: 2-220011368-G-A
• gnomAD v4: 2-219146646-G-A
• MyVariant Identifiers: chr2:g.220011368G>A (hg19) ; chr2:g.219146646G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146646G>A , CM000664.2:g.219146646G>A	GRCh38
NC_000002.11:g.220011368G>A , CM000664.1:g.220011368G>A	GRCh37
NC_000002.10:g.219719612G>A	NCBI36
NG_007880.1:g.19220C>T , LRG_90:g.19220C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426304.6:c.588+34C>T	ENSP00000394896.2:n.588+34C>T
ENST00000457600.3:c.588+34C>T	ENSP00000407201.2:n.588+34C>T
ENST00000698174.1:c.588+34C>T	ENSP00000513594.1:n.588+34C>T
ENST00000698175.1:c.*335+34C>T	ENSP00000513595.1:n.*335+34C>T
ENST00000698176.1:n.660+34C>T
ENST00000698202.1:c.588+34C>T	ENSP00000513605.1:n.588+34C>T
ENST00000698203.1:c.588+34C>T	ENSP00000513606.1:n.588+34C>T
ENST00000356853.10:c.588+34C>T MANE Select	ENSP00000349313.5:n.588+34C>T
ENST00000318673.6:c.*1710+34C>T	ENSP00000320919.3:n.*1710+34C>T
ENST00000356853.9:c.588+34C>T	ENSP00000349313.5:n.588+34C>T
ENST00000409720.5:c.588+34C>T	ENSP00000387290.1:n.588+34C>T
ENST00000418099.5:c.588+34C>T	ENSP00000408966.1:n.588+34C>T
ENST00000426304.5:c.348+34C>T	ENSP00000394896.1:n.348+34C>T
ENST00000457600.2:c.588+34C>T	ENSP00000407201.1:n.588+34C>T
ENST00000498327.5:n.2776+34C>T
NM_024782.2:c.588+34C>T , LRG_90t1:c.588+34C>T	NP_079058.1:n.588+34C>T
NM_001377498.1:c.588+34C>T	NP_001364427.1:n.588+34C>T
NM_001377499.1:c.588+34C>T	NP_001364428.1:n.588+34C>T
NM_024782.3:c.588+34C>T MANE Select	NP_079058.1:n.588+34C>T
NR_165304.1:n.684+34C>T