Canonical Allele Identifier: CA308953830

Gene: ERCC2

Linked Data

• dbSNP Id: rs932466121
• gnomAD v3: 19-45354032-A-AAGGCCGATGTCCTGGCTGT
• gnomAD v4: 19-45354032-A-AAGGCCGATGTCCTGGCTGT
• MyVariant Identifiers: chr19:g.45857290_45857291insAGGCCGATGTCCTGGCTGT (hg19) ; chr19:g.45354032_45354033insAGGCCGATGTCCTGGCTGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45354033_45354051dup , CM000681.2:g.45354033_45354051dup	GRCh38
NC_000019.9:g.45857291_45857309dup , CM000681.1:g.45857291_45857309dup	GRCh37
NC_000019.8:g.50549131_50549149dup	NCBI36
NG_007067.2:g.21537_21555dup , LRG_461:g.21537_21555dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1665+679_1665+697dup	ENSP00000375808.4:n.1665+679_1665+697dup
ENST00000682414.1:c.1665+679_1665+697dup	ENSP00000507019.1:n.1665+679_1665+697dup
ENST00000682508.1:n.1694+679_1694+697dup
ENST00000684218.1:c.*923+679_*923+697dup	ENSP00000507804.1:n.*923+679_*923+697dup
ENST00000684264.1:n.1221+679_1221+697dup
ENST00000684407.1:c.1542+679_1542+697dup	ENSP00000507775.1:n.1542+679_1542+697dup
ENST00000684458.1:c.*151+679_*151+697dup	ENSP00000508260.1:n.*151+679_*151+697dup
ENST00000684468.1:n.1377+679_1377+697dup
ENST00000391945.10:c.1665+679_1665+697dup MANE Select	ENSP00000375809.4:n.1665+679_1665+697dup
ENST00000587376.6:c.724+679_724+697dup
ENST00000646507.1:n.1762+679_1762+697dup
ENST00000391941.6:c.1593+679_1593+697dup	ENSP00000375805.2:n.1593+679_1593+697dup
ENST00000391942.6:n.836+679_836+697dup
ENST00000391944.7:c.1431+679_1431+697dup	ENSP00000375808.3:n.1431+679_1431+697dup
ENST00000391945.8:c.1665+679_1665+697dup	ENSP00000375809.3:n.1665+679_1665+697dup
ENST00000587376.5:c.724+679_724+697dup
ENST00000588652.5:n.1753+679_1753+697dup
NM_000400.3:c.1665+679_1665+697dup , LRG_461t1:c.1665+679_1665+697dup	NP_000391.1:n.1665+679_1665+697dup
XM_011526611.1:c.1587+679_1587+697dup	XP_011524913.1:n.1587+679_1587+697dup
XR_935763.1:n.1648+679_1648+697dup
XM_011526611.2:c.1587+679_1587+697dup	XP_011524913.1:n.1587+679_1587+697dup
XM_017026467.1:c.1542+679_1542+697dup	XP_016881956.1:n.1542+679_1542+697dup
XR_001753633.2:n.1712+679_1712+697dup
XR_001753634.2:n.1648+679_1648+697dup
NM_000400.4:c.1665+679_1665+697dup MANE Select	NP_000391.1:n.1665+679_1665+697dup