Canonical Allele Identifier: CA996296665

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971929883
• gnomAD v3: 19-45354110-A-ACTCAC
• gnomAD v4: 19-45354110-A-ACTCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45354117_45354121dup , CM000681.2:g.45354117_45354121dup	GRCh38
NC_000019.9:g.45857375_45857379dup , CM000681.1:g.45857375_45857379dup	GRCh37
NC_000019.8:g.50549215_50549219dup	NCBI36
NG_007067.2:g.21473_21477dup , LRG_461:g.21473_21477dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1665+615_1665+619dup	ENSP00000375808.4:n.1665+615_1665+619dup
ENST00000682414.1:c.1665+615_1665+619dup	ENSP00000507019.1:n.1665+615_1665+619dup
ENST00000682508.1:n.1694+615_1694+619dup
ENST00000684218.1:c.*923+615_*923+619dup	ENSP00000507804.1:n.*923+615_*923+619dup
ENST00000684264.1:n.1221+615_1221+619dup
ENST00000684407.1:c.1542+615_1542+619dup	ENSP00000507775.1:n.1542+615_1542+619dup
ENST00000684458.1:c.*151+615_*151+619dup	ENSP00000508260.1:n.*151+615_*151+619dup
ENST00000684468.1:n.1377+615_1377+619dup
ENST00000391945.10:c.1665+615_1665+619dup MANE Select	ENSP00000375809.4:n.1665+615_1665+619dup
ENST00000587376.6:c.724+615_724+619dup
ENST00000646507.1:n.1762+615_1762+619dup
ENST00000391941.6:c.1593+615_1593+619dup	ENSP00000375805.2:n.1593+615_1593+619dup
ENST00000391942.6:n.836+615_836+619dup
ENST00000391944.7:c.1431+615_1431+619dup	ENSP00000375808.3:n.1431+615_1431+619dup
ENST00000391945.8:c.1665+615_1665+619dup	ENSP00000375809.3:n.1665+615_1665+619dup
ENST00000587376.5:c.724+615_724+619dup
ENST00000588652.5:n.1753+615_1753+619dup
NM_000400.3:c.1665+615_1665+619dup , LRG_461t1:c.1665+615_1665+619dup	NP_000391.1:n.1665+615_1665+619dup
XM_011526611.1:c.1587+615_1587+619dup	XP_011524913.1:n.1587+615_1587+619dup
XR_935763.1:n.1648+615_1648+619dup
XM_011526611.2:c.1587+615_1587+619dup	XP_011524913.1:n.1587+615_1587+619dup
XM_017026467.1:c.1542+615_1542+619dup	XP_016881956.1:n.1542+615_1542+619dup
XR_001753633.2:n.1712+615_1712+619dup
XR_001753634.2:n.1648+615_1648+619dup
NM_000400.4:c.1665+615_1665+619dup MANE Select	NP_000391.1:n.1665+615_1665+619dup