Canonical Allele Identifier: CA2580097406

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2441812
• ClinVar RCV Id: RCV003148115 ; RCV003148116 ; RCV003148117

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352533_45352534del , CM000681.2:g.45352533_45352534del	GRCh38
NC_000019.9:g.45855791_45855792del , CM000681.1:g.45855791_45855792del	GRCh37
NC_000019.8:g.50547631_50547632del	NCBI36
NG_007067.2:g.23054_23055del , LRG_461:g.23054_23055del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2018_2019del	ENSP00000375808.4:p.Asp673ValfsTer?
ENST00000682414.1:c.2018_2019del	ENSP00000507019.1:p.Asp673ValfsTer?
ENST00000682508.1:n.2047_2048del
ENST00000684218.1:c.*1276_*1277del	ENSP00000507804.1:n.*1276_*1277del
ENST00000684264.1:n.1574_1575del
ENST00000684407.1:c.1895_1896del	ENSP00000507775.1:p.Asp632ValfsTer?
ENST00000684458.1:c.*504_*505del	ENSP00000508260.1:n.*504_*505del
ENST00000684468.1:n.1730_1731del
ENST00000391945.10:c.2018_2019del MANE Select	ENSP00000375809.4:p.Asp673ValfsTer?
ENST00000646507.1:n.2115_2116del
ENST00000391941.6:c.1946_1947del	ENSP00000375805.2:p.Asp649ValfsTer?
ENST00000391942.6:n.1189_1190del
ENST00000391944.7:c.1784_1785del	ENSP00000375808.3:p.Asp595ValfsTer?
ENST00000391945.8:c.2018_2019del	ENSP00000375809.3:p.Asp673ValfsTer?
ENST00000588652.5:n.2106_2107del
NM_000400.3:c.2018_2019del , LRG_461t1:c.2018_2019del	NP_000391.1:p.Asp673ValfsTer?
XM_011526611.1:c.1940_1941del	XP_011524913.1:p.Asp647ValfsTer?
XM_011526611.2:c.1940_1941del	XP_011524913.1:p.Asp647ValfsTer?
XM_017026467.1:c.1895_1896del	XP_016881956.1:p.Asp632ValfsTer?
XR_001753633.2:n.2065_2066del
XR_001753634.2:n.2001_2002del
NM_000400.4:c.2018_2019del MANE Select	NP_000391.1:p.Asp673ValfsTer?