Canonical Allele Identifier: CA2585788659

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45364105-T-TCTGTCTCTTTGATC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364109_45364122dup , CM000681.2:g.45364109_45364122dup	GRCh38
NC_000019.9:g.45867367_45867380dup , CM000681.1:g.45867367_45867380dup	GRCh37
NC_000019.8:g.50559207_50559220dup	NCBI36
NG_007067.2:g.11469_11482dup , LRG_461:g.11469_11482dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.816_829dup
ENST00000682414.1:c.816_829dup
ENST00000682508.1:n.845_858dup
ENST00000684218.1:c.*74_*87dup
ENST00000684407.1:c.693_706dup
ENST00000684458.1:c.816_829dup
ENST00000391945.10:c.816_829dup
ENST00000586131.6:c.744_757dup
ENST00000646507.1:n.913_926dup
ENST00000391941.6:c.744_757dup
ENST00000391944.7:c.582_595dup
ENST00000391945.8:c.816_829dup
ENST00000485403.6:c.744_757dup
ENST00000586131.5:c.744_757dup
ENST00000586737.5:n.453_466dup
ENST00000591309.5:c.*74_*87dup
NM_000400.3:c.816_829dup , LRG_461t1:c.816_829dup
NM_001130867.1:c.744_757dup
XM_011526611.1:c.738_751dup
XR_935763.1:n.863_876dup
XM_011526611.2:c.738_751dup
XM_017026467.1:c.693_706dup
XR_001753633.2:n.863_876dup
XR_001753634.2:n.863_876dup
NM_000400.4:c.816_829dup
NM_001130867.2:c.744_757dup