Canonical Allele Identifier: CA2338388698

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352250_45352258delinsCCACCTGGA , CM000681.2:g.45352250_45352258delinsCCACCTGGA	GRCh38
NC_000019.9:g.45855508_45855516delinsCCACCTGGA , CM000681.1:g.45855508_45855516delinsCCACCTGGA	GRCh37
NC_000019.8:g.50547348_50547356delinsCCACCTGGA	NCBI36
NG_007067.2:g.23330_23338delinsTCCAGGTGG , LRG_461:g.23330_23338delinsTCCAGGTGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2141_2149delinsTCCAGGTGG	ENSP00000375808.4:p.Val714=
ENST00000682414.1:c.2141_2149delinsTCCAGGTGG	ENSP00000507019.1:p.Val714=
ENST00000682508.1:n.2170_2178delinsTCCAGGTGG
ENST00000684218.1:c.*1399_*1407delinsTCCAGGTGG	ENSP00000507804.1:n.*1399_*1407delinsTCCA...
ENST00000684264.1:n.1697_1705delinsTCCAGGTGG
ENST00000684407.1:c.2018_2026delinsTCCAGGTGG	ENSP00000507775.1:p.Val673=
ENST00000684458.1:c.*627_*635delinsTCCAGGTGG	ENSP00000508260.1:n.*627_*635delinsTCCAGG...
ENST00000684468.1:n.1853_1861delinsTCCAGGTGG
ENST00000391945.10:c.2141_2149delinsTCCAGGTGG MANE Select	ENSP00000375809.4:p.Val714=
ENST00000646507.1:n.2238_2246delinsTCCAGGTGG
ENST00000391941.6:c.2069_2077delinsTCCAGGTGG	ENSP00000375805.2:p.Val690=
ENST00000391942.6:n.1312_1320delinsTCCAGGTGG
ENST00000391944.7:c.1907_1915delinsTCCAGGTGG	ENSP00000375808.3:p.Val636=
ENST00000391945.8:c.2141_2149delinsTCCAGGTGG	ENSP00000375809.3:p.Val714=
ENST00000588652.5:n.2229_2237delinsTCCAGGTGG
NM_000400.3:c.2141_2149delinsTCCAGGTGG , LRG_461t1:c.2141_2149delinsTCCAGGTGG	NP_000391.1:p.Val714=
XM_011526611.1:c.2063_2071delinsTCCAGGTGG	XP_011524913.1:p.Val688=
XM_011526611.2:c.2063_2071delinsTCCAGGTGG	XP_011524913.1:p.Val688=
XM_017026467.1:c.2018_2026delinsTCCAGGTGG	XP_016881956.1:p.Val673=
XR_001753633.2:n.2188_2196delinsTCCAGGTGG
XR_001753634.2:n.2124_2132delinsTCCAGGTGG
NM_000400.4:c.2141_2149delinsTCCAGGTGG MANE Select	NP_000391.1:p.Val714=