Canonical Allele Identifier: CA2697552005

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2769578
• ClinVar RCV Id: RCV003578804

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352188_45352198del , CM000681.2:g.45352188_45352198del	GRCh38
NC_000019.9:g.45855446_45855456del , CM000681.1:g.45855446_45855456del	GRCh37
NC_000019.8:g.50547286_50547296del	NCBI36
NG_007067.2:g.23392_23402del , LRG_461:g.23392_23402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2203_2213del	ENSP00000375808.4:p.Ser735AlafsTer?
ENST00000682414.1:c.2190+13_2190+23del	ENSP00000507019.1:n.2190+13_2190+23del
ENST00000682508.1:n.2219+13_2219+23del
ENST00000684218.1:c.*1448+13_*1448+23del	ENSP00000507804.1:n.*1448+13_*1448+23del
ENST00000684264.1:n.1746+13_1746+23del
ENST00000684407.1:c.2067+13_2067+23del	ENSP00000507775.1:n.2067+13_2067+23del
ENST00000684458.1:c.*676+13_*676+23del	ENSP00000508260.1:n.*676+13_*676+23del
ENST00000684468.1:n.1902+13_1902+23del
ENST00000391945.10:c.2190+13_2190+23del MANE Select	ENSP00000375809.4:n.2190+13_2190+23del
ENST00000646507.1:n.2287+13_2287+23del
ENST00000391942.6:n.1361+13_1361+23del
ENST00000391944.7:c.1956+13_1956+23del	ENSP00000375808.3:n.1956+13_1956+23del
ENST00000391945.8:c.2190+13_2190+23del	ENSP00000375809.3:n.2190+13_2190+23del
ENST00000588652.5:n.2278+13_2278+23del
NM_000400.3:c.2190+13_2190+23del , LRG_461t1:c.2190+13_2190+23del	NP_000391.1:n.2190+13_2190+23del
XM_011526611.1:c.2112+13_2112+23del	XP_011524913.1:n.2112+13_2112+23del
XM_011526611.2:c.2112+13_2112+23del	XP_011524913.1:n.2112+13_2112+23del
XM_017026467.1:c.2067+13_2067+23del	XP_016881956.1:n.2067+13_2067+23del
XR_001753633.2:n.2237+13_2237+23del
XR_001753634.2:n.2173+13_2173+23del
NM_000400.4:c.2190+13_2190+23del MANE Select	NP_000391.1:n.2190+13_2190+23del