Canonical Allele Identifier: CA882714863

Gene: ERCC2

Linked Data

• dbSNP Id: rs1367565727
• gnomAD v4: 19-45352120-T-TGAGGGTG
• MyVariant Identifiers: chr19:g.45855378_45855379insGAGGGTG (hg19) ; chr19:g.45352120_45352121insGAGGGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352122_45352128dup , CM000681.2:g.45352122_45352128dup	GRCh38
NC_000019.9:g.45855380_45855386dup , CM000681.1:g.45855380_45855386dup	GRCh37
NC_000019.8:g.50547220_50547226dup	NCBI36
NG_007067.2:g.23461_23467dup , LRG_461:g.23461_23467dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2272_2278dup	ENSP00000375808.4:p.Gln760ProfsTer?
ENST00000682414.1:c.2190+82_2190+88dup	ENSP00000507019.1:n.2190+82_2190+88dup
ENST00000682508.1:n.2219+82_2219+88dup
ENST00000684218.1:c.*1448+82_*1448+88dup	ENSP00000507804.1:n.*1448+82_*1448+88dup
ENST00000684264.1:n.1746+82_1746+88dup
ENST00000684407.1:c.2067+82_2067+88dup	ENSP00000507775.1:n.2067+82_2067+88dup
ENST00000684458.1:c.*676+82_*676+88dup	ENSP00000508260.1:n.*676+82_*676+88dup
ENST00000684468.1:n.1902+82_1902+88dup
ENST00000391945.10:c.2190+82_2190+88dup MANE Select	ENSP00000375809.4:n.2190+82_2190+88dup
ENST00000646507.1:n.2287+82_2287+88dup
ENST00000391942.6:n.1361+82_1361+88dup
ENST00000391944.7:c.1956+82_1956+88dup	ENSP00000375808.3:n.1956+82_1956+88dup
ENST00000391945.8:c.2190+82_2190+88dup	ENSP00000375809.3:n.2190+82_2190+88dup
ENST00000588652.5:n.2278+82_2278+88dup
NM_000400.3:c.2190+82_2190+88dup , LRG_461t1:c.2190+82_2190+88dup	NP_000391.1:n.2190+82_2190+88dup
XM_011526611.1:c.2112+82_2112+88dup	XP_011524913.1:n.2112+82_2112+88dup
XM_011526611.2:c.2112+82_2112+88dup	XP_011524913.1:n.2112+82_2112+88dup
XM_017026467.1:c.2067+82_2067+88dup	XP_016881956.1:n.2067+82_2067+88dup
XR_001753633.2:n.2237+82_2237+88dup
XR_001753634.2:n.2173+82_2173+88dup
NM_000400.4:c.2190+82_2190+88dup MANE Select	NP_000391.1:n.2190+82_2190+88dup