Canonical Allele Identifier: CA2338388899

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352566_45352568delinsCTG , CM000681.2:g.45352566_45352568delinsCTG	GRCh38
NC_000019.9:g.45855824_45855826delinsCTG , CM000681.1:g.45855824_45855826delinsCTG	GRCh37
NC_000019.8:g.50547664_50547666delinsCTG	NCBI36
NG_007067.2:g.23020_23022delinsCAG , LRG_461:g.23020_23022delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1984_1986delinsCAG	ENSP00000375808.4:p.Gln662=
ENST00000682414.1:c.1984_1986delinsCAG	ENSP00000507019.1:p.Gln662=
ENST00000682508.1:n.2013_2015delinsCAG
ENST00000684218.1:c.*1242_*1244delinsCAG	ENSP00000507804.1:n.*1242_*1244delinsCAG
ENST00000684264.1:n.1540_1542delinsCAG
ENST00000684407.1:c.1861_1863delinsCAG	ENSP00000507775.1:p.Gln621=
ENST00000684458.1:c.*470_*472delinsCAG	ENSP00000508260.1:n.*470_*472delinsCAG
ENST00000684468.1:n.1696_1698delinsCAG
ENST00000391945.10:c.1984_1986delinsCAG MANE Select	ENSP00000375809.4:p.Gln662=
ENST00000646507.1:n.2081_2083delinsCAG
ENST00000391941.6:c.1912_1914delinsCAG	ENSP00000375805.2:p.Gln638=
ENST00000391942.6:n.1155_1157delinsCAG
ENST00000391944.7:c.1750_1752delinsCAG	ENSP00000375808.3:p.Gln584=
ENST00000391945.8:c.1984_1986delinsCAG	ENSP00000375809.3:p.Gln662=
ENST00000588652.5:n.2072_2074delinsCAG
NM_000400.3:c.1984_1986delinsCAG , LRG_461t1:c.1984_1986delinsCAG	NP_000391.1:p.Gln662=
XM_011526611.1:c.1906_1908delinsCAG	XP_011524913.1:p.Gln636=
XM_011526611.2:c.1906_1908delinsCAG	XP_011524913.1:p.Gln636=
XM_017026467.1:c.1861_1863delinsCAG	XP_016881956.1:p.Gln621=
XR_001753633.2:n.2031_2033delinsCAG
XR_001753634.2:n.1967_1969delinsCAG
NM_000400.4:c.1984_1986delinsCAG MANE Select	NP_000391.1:p.Gln662=