Canonical Allele Identifier: CA2338389118

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352897_45352899delinsCTG , CM000681.2:g.45352897_45352899delinsCTG	GRCh38
NC_000019.9:g.45856155_45856157delinsCTG , CM000681.1:g.45856155_45856157delinsCTG	GRCh37
NC_000019.8:g.50547995_50547997delinsCTG	NCBI36
NG_007067.2:g.22689_22691delinsCAG , LRG_461:g.22689_22691delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1832-83_1832-81delinsCAG	ENSP00000375808.4:n.1832-83_1832-81delinsCAG
ENST00000682414.1:c.1832-83_1832-81delinsCAG	ENSP00000507019.1:n.1832-83_1832-81delinsCAG
ENST00000682508.1:n.1861-83_1861-81delinsCAG
ENST00000684218.1:c.*1090-83_*1090-81delinsCAG	ENSP00000507804.1:n.*1090-83_*1090-81delinsCAG
ENST00000684264.1:n.1388-83_1388-81delinsCAG
ENST00000684407.1:c.1709-83_1709-81delinsCAG	ENSP00000507775.1:n.1709-83_1709-81delinsCAG
ENST00000684458.1:c.*318-83_*318-81delinsCAG	ENSP00000508260.1:n.*318-83_*318-81delinsCAG
ENST00000684468.1:n.1544-83_1544-81delinsCAG
ENST00000391945.10:c.1832-83_1832-81delinsCAG MANE Select	ENSP00000375809.4:n.1832-83_1832-81delinsCAG
ENST00000646507.1:n.1929-83_1929-81delinsCAG
ENST00000391941.6:c.1760-83_1760-81delinsCAG	ENSP00000375805.2:n.1760-83_1760-81delinsCAG
ENST00000391942.6:n.1003-83_1003-81delinsCAG
ENST00000391944.7:c.1598-83_1598-81delinsCAG	ENSP00000375808.3:n.1598-83_1598-81delinsCAG
ENST00000391945.8:c.1832-83_1832-81delinsCAG	ENSP00000375809.3:n.1832-83_1832-81delinsCAG
ENST00000588652.5:n.1920-83_1920-81delinsCAG
NM_000400.3:c.1832-83_1832-81delinsCAG , LRG_461t1:c.1832-83_1832-81delinsCAG	NP_000391.1:n.1832-83_1832-81delinsCAG
XM_011526611.1:c.1754-83_1754-81delinsCAG	XP_011524913.1:n.1754-83_1754-81delinsCAG
XM_011526611.2:c.1754-83_1754-81delinsCAG	XP_011524913.1:n.1754-83_1754-81delinsCAG
XM_017026467.1:c.1709-83_1709-81delinsCAG	XP_016881956.1:n.1709-83_1709-81delinsCAG
XR_001753633.2:n.1879-83_1879-81delinsCAG
XR_001753634.2:n.1815-83_1815-81delinsCAG
NM_000400.4:c.1832-83_1832-81delinsCAG MANE Select	NP_000391.1:n.1832-83_1832-81delinsCAG