Canonical Allele Identifier: CA2697552012

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2717457
• ClinVar RCV Id: RCV003548794

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352834_45352869dup , CM000681.2:g.45352834_45352869dup	GRCh38
NC_000019.9:g.45856092_45856127dup , CM000681.1:g.45856092_45856127dup	GRCh37
NC_000019.8:g.50547932_50547967dup	NCBI36
NG_007067.2:g.22719_22754dup , LRG_461:g.22719_22754dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-53_1832-18dup	ENSP00000375808.4:n.1832-53_1832-18dup
ENST00000682414.1:c.1832-53_1832-18dup	ENSP00000507019.1:n.1832-53_1832-18dup
ENST00000682508.1:n.1861-53_1861-18dup
ENST00000684218.1:c.*1090-53_*1090-18dup	ENSP00000507804.1:n.*1090-53_*1090-18dup
ENST00000684264.1:n.1388-53_1388-18dup
ENST00000684407.1:c.1709-53_1709-18dup	ENSP00000507775.1:n.1709-53_1709-18dup
ENST00000684458.1:c.*318-53_*318-18dup	ENSP00000508260.1:n.*318-53_*318-18dup
ENST00000684468.1:n.1544-53_1544-18dup
ENST00000391945.10:c.1832-53_1832-18dup MANE Select	ENSP00000375809.4:n.1832-53_1832-18dup
ENST00000646507.1:n.1929-53_1929-18dup
ENST00000391941.6:c.1760-53_1760-18dup	ENSP00000375805.2:n.1760-53_1760-18dup
ENST00000391942.6:n.1003-53_1003-18dup
ENST00000391944.7:c.1598-53_1598-18dup	ENSP00000375808.3:n.1598-53_1598-18dup
ENST00000391945.8:c.1832-53_1832-18dup	ENSP00000375809.3:n.1832-53_1832-18dup
ENST00000588652.5:n.1920-53_1920-18dup
NM_000400.3:c.1832-53_1832-18dup , LRG_461t1:c.1832-53_1832-18dup	NP_000391.1:n.1832-53_1832-18dup
XM_011526611.1:c.1754-53_1754-18dup	XP_011524913.1:n.1754-53_1754-18dup
XM_011526611.2:c.1754-53_1754-18dup	XP_011524913.1:n.1754-53_1754-18dup
XM_017026467.1:c.1709-53_1709-18dup	XP_016881956.1:n.1709-53_1709-18dup
XR_001753633.2:n.1879-53_1879-18dup
XR_001753634.2:n.1815-53_1815-18dup
NM_000400.4:c.1832-53_1832-18dup MANE Select	NP_000391.1:n.1832-53_1832-18dup