Canonical Allele Identifier: CA2739276882

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2849952
• ClinVar RCV Id: RCV003688074

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352194_45352202del , CM000681.2:g.45352194_45352202del	GRCh38
NC_000019.9:g.45855452_45855460del , CM000681.1:g.45855452_45855460del	GRCh37
NC_000019.8:g.50547292_50547300del	NCBI36
NG_007067.2:g.23388_23396del , LRG_461:g.23388_23396del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2199_2207del	ENSP00000375808.4:p.Ala734_Pro736del
ENST00000682414.1:c.2190+9_2190+17del	ENSP00000507019.1:n.2190+9_2190+17del
ENST00000682508.1:n.2219+9_2219+17del
ENST00000684218.1:c.*1448+9_*1448+17del	ENSP00000507804.1:n.*1448+9_*1448+17del
ENST00000684264.1:n.1746+9_1746+17del
ENST00000684407.1:c.2067+9_2067+17del	ENSP00000507775.1:n.2067+9_2067+17del
ENST00000684458.1:c.*676+9_*676+17del	ENSP00000508260.1:n.*676+9_*676+17del
ENST00000684468.1:n.1902+9_1902+17del
ENST00000391945.10:c.2190+9_2190+17del MANE Select	ENSP00000375809.4:n.2190+9_2190+17del
ENST00000646507.1:n.2287+9_2287+17del
ENST00000391942.6:n.1361+9_1361+17del
ENST00000391944.7:c.1956+9_1956+17del	ENSP00000375808.3:n.1956+9_1956+17del
ENST00000391945.8:c.2190+9_2190+17del	ENSP00000375809.3:n.2190+9_2190+17del
ENST00000588652.5:n.2278+9_2278+17del
NM_000400.3:c.2190+9_2190+17del , LRG_461t1:c.2190+9_2190+17del	NP_000391.1:n.2190+9_2190+17del
XM_011526611.1:c.2112+9_2112+17del	XP_011524913.1:n.2112+9_2112+17del
XM_011526611.2:c.2112+9_2112+17del	XP_011524913.1:n.2112+9_2112+17del
XM_017026467.1:c.2067+9_2067+17del	XP_016881956.1:n.2067+9_2067+17del
XR_001753633.2:n.2237+9_2237+17del
XR_001753634.2:n.2173+9_2173+17del
NM_000400.4:c.2190+9_2190+17del MANE Select	NP_000391.1:n.2190+9_2190+17del