Canonical Allele Identifier: CA2576816112

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352832_45352833insTGGGGGCG , CM000681.2:g.45352832_45352833insTGGGGGCG	GRCh38
NC_000019.9:g.45856090_45856091insTGGGGGCG , CM000681.1:g.45856090_45856091insTGGGGGCG	GRCh37
NC_000019.8:g.50547930_50547931insTGGGGGCG	NCBI36
NG_007067.2:g.22756_22757insGCCCCCAC , LRG_461:g.22756_22757insGCCCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-16_1832-15insGCCCCCAC	ENSP00000375808.4:n.1832-16_1832-15insGCCCCCAC
ENST00000682414.1:c.1832-16_1832-15insGCCCCCAC	ENSP00000507019.1:n.1832-16_1832-15insGCCCCCAC
ENST00000682508.1:n.1861-16_1861-15insGCCCCCAC
ENST00000684218.1:c.*1090-16_*1090-15insGCCCCCAC	ENSP00000507804.1:n.*1090-16_*1090-15insGCCCCCAC
ENST00000684264.1:n.1388-16_1388-15insGCCCCCAC
ENST00000684407.1:c.1709-16_1709-15insGCCCCCAC	ENSP00000507775.1:n.1709-16_1709-15insGCCCCCAC
ENST00000684458.1:c.*318-16_*318-15insGCCCCCAC	ENSP00000508260.1:n.*318-16_*318-15insGCCCCCAC
ENST00000684468.1:n.1544-16_1544-15insGCCCCCAC
ENST00000391945.10:c.1832-16_1832-15insGCCCCCAC MANE Select	ENSP00000375809.4:n.1832-16_1832-15insGCCCCCAC
ENST00000646507.1:n.1929-16_1929-15insGCCCCCAC
ENST00000391941.6:c.1760-16_1760-15insGCCCCCAC	ENSP00000375805.2:n.1760-16_1760-15insGCCCCCAC
ENST00000391942.6:n.1003-16_1003-15insGCCCCCAC
ENST00000391944.7:c.1598-16_1598-15insGCCCCCAC	ENSP00000375808.3:n.1598-16_1598-15insGCCCCCAC
ENST00000391945.8:c.1832-16_1832-15insGCCCCCAC	ENSP00000375809.3:n.1832-16_1832-15insGCCCCCAC
ENST00000588652.5:n.1920-16_1920-15insGCCCCCAC
NM_000400.3:c.1832-16_1832-15insGCCCCCAC , LRG_461t1:c.1832-16_1832-15insGCCCCCAC	NP_000391.1:n.1832-16_1832-15insGCCCCCAC
XM_011526611.1:c.1754-16_1754-15insGCCCCCAC	XP_011524913.1:n.1754-16_1754-15insGCCCCCAC
XM_011526611.2:c.1754-16_1754-15insGCCCCCAC	XP_011524913.1:n.1754-16_1754-15insGCCCCCAC
XM_017026467.1:c.1709-16_1709-15insGCCCCCAC	XP_016881956.1:n.1709-16_1709-15insGCCCCCAC
XR_001753633.2:n.1879-16_1879-15insGCCCCCAC
XR_001753634.2:n.1815-16_1815-15insGCCCCCAC
NM_000400.4:c.1832-16_1832-15insGCCCCCAC MANE Select	NP_000391.1:n.1832-16_1832-15insGCCCCCAC