Canonical Allele Identifier: CA633480441

Gene: ERCC2

Linked Data

• gnomAD v2: 19-45856046-C-CCCCCCTCGCCCCCTCTCCTCTGCCCACCAGTGCACCACTGCACCT
• MyVariant Identifiers: chr19:g.45856047_45856049delinsCCCCCTCGCCCCCTCTCCTCTGCCCACCAGTGCACCACTGCACCTATG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352788_45352789insCCCCCTCGCCCCCTCTCCTCTGCCCACCAGTGCACCACTGCACCT , CM000681.2:g.45352788_45352789insCCCCCTCGCCCCCTCTCCTCTGCCCACCAGTGCACCACTGCACCT	GRCh38
NC_000019.9:g.45856046_45856047insCCCCCTCGCCCCCTCTCCTCTGCCCACCAGTGCACCACTGCACCT , CM000681.1:g.45856046_45856047insCCCCCTCGCCCCCTCTCCTCTGCCCACCAGTGCACCACTGCACCT	GRCh37
NC_000019.8:g.50547886_50547887insCCCCCTCGCCCCCTCTCCTCTGCCCACCAGTGCACCACTGCACCT	NCBI36
NG_007067.2:g.22799_22800insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG , LRG_461:g.22799_22800insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1859_1860insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	ENSP00000375808.4:p.Met620delinsIleGlyAlaValValHisTrpTrpAlaGl...
ENST00000682414.1:c.1859_1860insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	ENSP00000507019.1:p.Met620delinsIleGlyAlaValValHisTrpTrpAlaGl...
ENST00000682508.1:n.1888_1889insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG
ENST00000684218.1:c.*1117_*1118insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	ENSP00000507804.1:n.*1117_*1118insAGGTGCAGTGGTGCACTGGTGGGCAGA...
ENST00000684264.1:n.1415_1416insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG
ENST00000684407.1:c.1736_1737insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	ENSP00000507775.1:p.Met579delinsIleGlyAlaValValHisTrpTrpAlaGl...
ENST00000684458.1:c.*345_*346insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	ENSP00000508260.1:n.*345_*346insAGGTGCAGTGGTGCACTGGTGGGCAGAGG...
ENST00000684468.1:n.1571_1572insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG
ENST00000391945.10:c.1859_1860insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG MANE Select	ENSP00000375809.4:p.Met620delinsIleGlyAlaValValHisTrpTrpAlaGl...
ENST00000646507.1:n.1956_1957insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG
ENST00000391941.6:c.1787_1788insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	ENSP00000375805.2:p.Met596delinsIleGlyAlaValValHisTrpTrpAlaGl...
ENST00000391942.6:n.1030_1031insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG
ENST00000391944.7:c.1625_1626insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	ENSP00000375808.3:p.Met542delinsIleGlyAlaValValHisTrpTrpAlaGl...
ENST00000391945.8:c.1859_1860insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	ENSP00000375809.3:p.Met620delinsIleGlyAlaValValHisTrpTrpAlaGl...
ENST00000588652.5:n.1947_1948insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG
NM_000400.3:c.1859_1860insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG , LRG_461t1:c.1859_1860insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	NP_000391.1:p.Met620delinsIleGlyAlaValValHisTrpTrpAlaGluGluAr...
XM_011526611.1:c.1781_1782insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	XP_011524913.1:p.Met594delinsIleGlyAlaValValHisTrpTrpAlaGluGl...
XM_011526611.2:c.1781_1782insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	XP_011524913.1:p.Met594delinsIleGlyAlaValValHisTrpTrpAlaGluGl...
XM_017026467.1:c.1736_1737insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG	XP_016881956.1:p.Met579delinsIleGlyAlaValValHisTrpTrpAlaGluGl...
XR_001753633.2:n.1906_1907insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG
XR_001753634.2:n.1842_1843insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG
NM_000400.4:c.1859_1860insAGGTGCAGTGGTGCACTGGTGGGCAGAGGAGAGGGGGCGAGGGGG MANE Select	NP_000391.1:p.Met620delinsIleGlyAlaValValHisTrpTrpAlaGluGluAr...