Canonical Allele Identifier: CA308951662
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs577948172

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352963_45352964insGAGAGGGGAGGGGAGGG , CM000681.2:g.45352963_45352964insGAGAGGGGAGGGGAGGG GRCh38
NC_000019.9:g.45856221_45856222insGAGAGGGGAGGGGAGGG , CM000681.1:g.45856221_45856222insGAGAGGGGAGGGGAGGG GRCh37
NC_000019.8:g.50548061_50548062insGAGAGGGGAGGGGAGGG NCBI36
NG_007067.2:g.22640_22641insCCCCTCCCCTCCCCTCT , LRG_461:g.22640_22641insCCCCTCCCCTCCCCTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1832-132_1832-131insCCCCTCCCCTCCCCTCT ENSP00000375808.4:n.1832-132_1832-131insCCCCTCCCCTCCCCTCT
ENST00000682414.1:c.1832-132_1832-131insCCCCTCCCCTCCCCTCT ENSP00000507019.1:n.1832-132_1832-131insCCCCTCCCCTCCCCTCT
ENST00000682508.1:n.1861-132_1861-131insCCCCTCCCCTCCCCTCT
ENST00000684218.1:c.*1090-132_*1090-131insCCCCTCCCCTCCCCTCT ENSP00000507804.1:n.*1090-132_*1090-131insCCCCTCCCCTCCCCTCT
ENST00000684264.1:n.1388-132_1388-131insCCCCTCCCCTCCCCTCT
ENST00000684407.1:c.1709-132_1709-131insCCCCTCCCCTCCCCTCT ENSP00000507775.1:n.1709-132_1709-131insCCCCTCCCCTCCCCTCT
ENST00000684458.1:c.*318-132_*318-131insCCCCTCCCCTCCCCTCT ENSP00000508260.1:n.*318-132_*318-131insCCCCTCCCCTCCCCTCT
ENST00000684468.1:n.1544-132_1544-131insCCCCTCCCCTCCCCTCT
ENST00000391945.10:c.1832-132_1832-131insCCCCTCCCCTCCCCTCT MANE Select ENSP00000375809.4:n.1832-132_1832-131insCCCCTCCCCTCCCCTCT
ENST00000646507.1:n.1929-132_1929-131insCCCCTCCCCTCCCCTCT
ENST00000391941.6:c.1760-132_1760-131insCCCCTCCCCTCCCCTCT ENSP00000375805.2:n.1760-132_1760-131insCCCCTCCCCTCCCCTCT
ENST00000391942.6:n.1003-132_1003-131insCCCCTCCCCTCCCCTCT
ENST00000391944.7:c.1598-132_1598-131insCCCCTCCCCTCCCCTCT ENSP00000375808.3:n.1598-132_1598-131insCCCCTCCCCTCCCCTCT
ENST00000391945.8:c.1832-132_1832-131insCCCCTCCCCTCCCCTCT ENSP00000375809.3:n.1832-132_1832-131insCCCCTCCCCTCCCCTCT
ENST00000588652.5:n.1920-132_1920-131insCCCCTCCCCTCCCCTCT
NM_000400.3:c.1832-132_1832-131insCCCCTCCCCTCCCCTCT , LRG_461t1:c.1832-132_1832-131insCCCCTCCCCTCCCCTCT NP_000391.1:n.1832-132_1832-131insCCCCTCCCCTCCCCTCT
XM_011526611.1:c.1754-132_1754-131insCCCCTCCCCTCCCCTCT XP_011524913.1:n.1754-132_1754-131insCCCCTCCCCTCCCCTCT
XM_011526611.2:c.1754-132_1754-131insCCCCTCCCCTCCCCTCT XP_011524913.1:n.1754-132_1754-131insCCCCTCCCCTCCCCTCT
XM_017026467.1:c.1709-132_1709-131insCCCCTCCCCTCCCCTCT XP_016881956.1:n.1709-132_1709-131insCCCCTCCCCTCCCCTCT
XR_001753633.2:n.1879-132_1879-131insCCCCTCCCCTCCCCTCT
XR_001753634.2:n.1815-132_1815-131insCCCCTCCCCTCCCCTCT
NM_000400.4:c.1832-132_1832-131insCCCCTCCCCTCCCCTCT MANE Select NP_000391.1:n.1832-132_1832-131insCCCCTCCCCTCCCCTCT