Canonical Allele Identifier: CA920118380

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2753542
• ClinVar RCV Id: RCV003568893
• dbSNP Id: rs1599723520

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352194_45352195dup , CM000681.2:g.45352194_45352195dup	GRCh38
NC_000019.9:g.45855452_45855453dup , CM000681.1:g.45855452_45855453dup	GRCh37
NC_000019.8:g.50547292_50547293dup	NCBI36
NG_007067.2:g.23396_23397dup , LRG_461:g.23396_23397dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2207_2208dup	ENSP00000375808.4:p.Ser737ProfsTer8
ENST00000682414.1:c.2190+17_2190+18dup	ENSP00000507019.1:n.2190+17_2190+18dup
ENST00000682508.1:n.2219+17_2219+18dup
ENST00000684218.1:c.*1448+17_*1448+18dup	ENSP00000507804.1:n.*1448+17_*1448+18dup
ENST00000684264.1:n.1746+17_1746+18dup
ENST00000684407.1:c.2067+17_2067+18dup	ENSP00000507775.1:n.2067+17_2067+18dup
ENST00000684458.1:c.*676+17_*676+18dup	ENSP00000508260.1:n.*676+17_*676+18dup
ENST00000684468.1:n.1902+17_1902+18dup
ENST00000391945.10:c.2190+17_2190+18dup MANE Select	ENSP00000375809.4:n.2190+17_2190+18dup
ENST00000646507.1:n.2287+17_2287+18dup
ENST00000391942.6:n.1361+17_1361+18dup
ENST00000391944.7:c.1956+17_1956+18dup	ENSP00000375808.3:n.1956+17_1956+18dup
ENST00000391945.8:c.2190+17_2190+18dup	ENSP00000375809.3:n.2190+17_2190+18dup
ENST00000588652.5:n.2278+17_2278+18dup
NM_000400.3:c.2190+17_2190+18dup , LRG_461t1:c.2190+17_2190+18dup	NP_000391.1:n.2190+17_2190+18dup
XM_011526611.1:c.2112+17_2112+18dup	XP_011524913.1:n.2112+17_2112+18dup
XM_011526611.2:c.2112+17_2112+18dup	XP_011524913.1:n.2112+17_2112+18dup
XM_017026467.1:c.2067+17_2067+18dup	XP_016881956.1:n.2067+17_2067+18dup
XR_001753633.2:n.2237+17_2237+18dup
XR_001753634.2:n.2173+17_2173+18dup
NM_000400.4:c.2190+17_2190+18dup MANE Select	NP_000391.1:n.2190+17_2190+18dup