Canonical Allele Identifier: CA882715890

Gene: ERCC2

Linked Data

• dbSNP Id: rs1433180752
• MyVariant Identifiers: chr19:g.45856073_45856074insACTGGTGGGCAGAGGAGAGG (hg19) ; chr19:g.45352815_45352816insACTGGTGGGCAGAGGAGAGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352816_45352835dup , CM000681.2:g.45352816_45352835dup	GRCh38
NC_000019.9:g.45856074_45856093dup , CM000681.1:g.45856074_45856093dup	GRCh37
NC_000019.8:g.50547914_50547933dup	NCBI36
NG_007067.2:g.22753_22772dup , LRG_461:g.22753_22772dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-19_1832dup
ENST00000682414.1:c.1832-19_1832dup
ENST00000682508.1:n.1861-19_1861dup
ENST00000684218.1:c.*1090-19_*1090dup
ENST00000684264.1:n.1388-19_1388dup
ENST00000684407.1:c.1709-19_1709dup
ENST00000684458.1:c.*318-19_*318dup
ENST00000684468.1:n.1544-19_1544dup
ENST00000391945.10:c.1832-19_1832dup
ENST00000646507.1:n.1929-19_1929dup
ENST00000391941.6:c.1760-19_1760dup
ENST00000391942.6:n.1003-19_1003dup
ENST00000391944.7:c.1598-19_1598dup
ENST00000391945.8:c.1832-19_1832dup
ENST00000588652.5:n.1920-19_1920dup
NM_000400.3:c.1832-19_1832dup , LRG_461t1:c.1832-19_1832dup
XM_011526611.1:c.1754-19_1754dup
XM_011526611.2:c.1754-19_1754dup
XM_017026467.1:c.1709-19_1709dup
XR_001753633.2:n.1879-19_1879dup
XR_001753634.2:n.1815-19_1815dup
NM_000400.4:c.1832-19_1832dup