Canonical Allele Identifier: CA2338388965

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352673_45352681delinsCTGGGGAGG , CM000681.2:g.45352673_45352681delinsCTGGGGAGG	GRCh38
NC_000019.9:g.45855931_45855939delinsCTGGGGAGG , CM000681.1:g.45855931_45855939delinsCTGGGGAGG	GRCh37
NC_000019.8:g.50547771_50547779delinsCTGGGGAGG	NCBI36
NG_007067.2:g.22907_22915delinsCCTCCCCAG , LRG_461:g.22907_22915delinsCCTCCCCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1903-32_1903-24delinsCCTCCCCAG	ENSP00000375808.4:n.1903-32_1903-24delinsCCTCCCCAG
ENST00000682414.1:c.1903-32_1903-24delinsCCTCCCCAG	ENSP00000507019.1:n.1903-32_1903-24delinsCCTCCCCAG
ENST00000682508.1:n.1932-32_1932-24delinsCCTCCCCAG
ENST00000684218.1:c.*1161-32_*1161-24delinsCCTCCCCAG	ENSP00000507804.1:n.*1161-32_*1161-24delinsCCTCCCCAG
ENST00000684264.1:n.1459-32_1459-24delinsCCTCCCCAG
ENST00000684407.1:c.1780-32_1780-24delinsCCTCCCCAG	ENSP00000507775.1:n.1780-32_1780-24delinsCCTCCCCAG
ENST00000684458.1:c.*389-32_*389-24delinsCCTCCCCAG	ENSP00000508260.1:n.*389-32_*389-24delinsCCTCCCCAG
ENST00000684468.1:n.1615-32_1615-24delinsCCTCCCCAG
ENST00000391945.10:c.1903-32_1903-24delinsCCTCCCCAG MANE Select	ENSP00000375809.4:n.1903-32_1903-24delinsCCTCCCCAG
ENST00000646507.1:n.2000-32_2000-24delinsCCTCCCCAG
ENST00000391941.6:c.1831-32_1831-24delinsCCTCCCCAG	ENSP00000375805.2:n.1831-32_1831-24delinsCCTCCCCAG
ENST00000391942.6:n.1074-32_1074-24delinsCCTCCCCAG
ENST00000391944.7:c.1669-32_1669-24delinsCCTCCCCAG	ENSP00000375808.3:n.1669-32_1669-24delinsCCTCCCCAG
ENST00000391945.8:c.1903-32_1903-24delinsCCTCCCCAG	ENSP00000375809.3:n.1903-32_1903-24delinsCCTCCCCAG
ENST00000588652.5:n.1991-32_1991-24delinsCCTCCCCAG
NM_000400.3:c.1903-32_1903-24delinsCCTCCCCAG , LRG_461t1:c.1903-32_1903-24delinsCCTCCCCAG	NP_000391.1:n.1903-32_1903-24delinsCCTCCCCAG
XM_011526611.1:c.1825-32_1825-24delinsCCTCCCCAG	XP_011524913.1:n.1825-32_1825-24delinsCCTCCCCAG
XM_011526611.2:c.1825-32_1825-24delinsCCTCCCCAG	XP_011524913.1:n.1825-32_1825-24delinsCCTCCCCAG
XM_017026467.1:c.1780-32_1780-24delinsCCTCCCCAG	XP_016881956.1:n.1780-32_1780-24delinsCCTCCCCAG
XR_001753633.2:n.1950-32_1950-24delinsCCTCCCCAG
XR_001753634.2:n.1886-32_1886-24delinsCCTCCCCAG
NM_000400.4:c.1903-32_1903-24delinsCCTCCCCAG MANE Select	NP_000391.1:n.1903-32_1903-24delinsCCTCCCCAG