Canonical Allele Identifier: CA2338388568

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352103_45352106delinsCAGG , CM000681.2:g.45352103_45352106delinsCAGG	GRCh38
NC_000019.9:g.45855361_45855364delinsCAGG , CM000681.1:g.45855361_45855364delinsCAGG	GRCh37
NC_000019.8:g.50547201_50547204delinsCAGG	NCBI36
NG_007067.2:g.23482_23485delinsCCTG , LRG_461:g.23482_23485delinsCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2293_2296delinsCCTG	ENSP00000375808.4:p.Pro765=
ENST00000682414.1:c.2190+103_2190+106delinsCCTG	ENSP00000507019.1:n.2190+103_2190+106delinsCCTG
ENST00000682508.1:n.2219+103_2219+106delinsCCTG
ENST00000684218.1:c.*1448+103_*1448+106delinsCCTG	ENSP00000507804.1:n.*1448+103_*1448+106delinsCCTG
ENST00000684264.1:n.1746+103_1746+106delinsCCTG
ENST00000684407.1:c.2067+103_2067+106delinsCCTG	ENSP00000507775.1:n.2067+103_2067+106delinsCCTG
ENST00000684458.1:c.*676+103_*676+106delinsCCTG	ENSP00000508260.1:n.*676+103_*676+106delinsCCTG
ENST00000684468.1:n.1902+103_1902+106delinsCCTG
ENST00000391945.10:c.2190+103_2190+106delinsCCTG MANE Select	ENSP00000375809.4:n.2190+103_2190+106delinsCCTG
ENST00000646507.1:n.2287+103_2287+106delinsCCTG
ENST00000391942.6:n.1361+103_1361+106delinsCCTG
ENST00000391944.7:c.1956+103_1956+106delinsCCTG	ENSP00000375808.3:n.1956+103_1956+106delinsCCTG
ENST00000391945.8:c.2190+103_2190+106delinsCCTG	ENSP00000375809.3:n.2190+103_2190+106delinsCCTG
ENST00000588652.5:n.2278+103_2278+106delinsCCTG
NM_000400.3:c.2190+103_2190+106delinsCCTG , LRG_461t1:c.2190+103_2190+106delinsCCTG	NP_000391.1:n.2190+103_2190+106delinsCCTG
XM_011526611.1:c.2112+103_2112+106delinsCCTG	XP_011524913.1:n.2112+103_2112+106delinsCCTG
XM_011526611.2:c.2112+103_2112+106delinsCCTG	XP_011524913.1:n.2112+103_2112+106delinsCCTG
XM_017026467.1:c.2067+103_2067+106delinsCCTG	XP_016881956.1:n.2067+103_2067+106delinsCCTG
XR_001753633.2:n.2237+103_2237+106delinsCCTG
XR_001753634.2:n.2173+103_2173+106delinsCCTG
NM_000400.4:c.2190+103_2190+106delinsCCTG MANE Select	NP_000391.1:n.2190+103_2190+106delinsCCTG