Canonical Allele Identifier: CA2338389023

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352759_45352760delinsCT , CM000681.2:g.45352759_45352760delinsCT	GRCh38
NC_000019.9:g.45856017_45856018delinsCT , CM000681.1:g.45856017_45856018delinsCT	GRCh37
NC_000019.8:g.50547857_50547858delinsCT	NCBI36
NG_007067.2:g.22828_22829delinsAG , LRG_461:g.22828_22829delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1888_1889delinsAG	ENSP00000375808.4:p.Ser630=
ENST00000682414.1:c.1888_1889delinsAG	ENSP00000507019.1:p.Ser630=
ENST00000682508.1:n.1917_1918delinsAG
ENST00000684218.1:c.*1146_*1147delinsAG	ENSP00000507804.1:n.*1146_*1147delinsAG
ENST00000684264.1:n.1444_1445delinsAG
ENST00000684407.1:c.1765_1766delinsAG	ENSP00000507775.1:p.Ser589=
ENST00000684458.1:c.*374_*375delinsAG	ENSP00000508260.1:n.*374_*375delinsAG
ENST00000684468.1:n.1600_1601delinsAG
ENST00000391945.10:c.1888_1889delinsAG MANE Select	ENSP00000375809.4:p.Ser630=
ENST00000646507.1:n.1985_1986delinsAG
ENST00000391941.6:c.1816_1817delinsAG	ENSP00000375805.2:p.Ser606=
ENST00000391942.6:n.1059_1060delinsAG
ENST00000391944.7:c.1654_1655delinsAG	ENSP00000375808.3:p.Ser552=
ENST00000391945.8:c.1888_1889delinsAG	ENSP00000375809.3:p.Ser630=
ENST00000588652.5:n.1976_1977delinsAG
NM_000400.3:c.1888_1889delinsAG , LRG_461t1:c.1888_1889delinsAG	NP_000391.1:p.Ser630=
XM_011526611.1:c.1810_1811delinsAG	XP_011524913.1:p.Ser604=
XM_011526611.2:c.1810_1811delinsAG	XP_011524913.1:p.Ser604=
XM_017026467.1:c.1765_1766delinsAG	XP_016881956.1:p.Ser589=
XR_001753633.2:n.1935_1936delinsAG
XR_001753634.2:n.1871_1872delinsAG
NM_000400.4:c.1888_1889delinsAG MANE Select	NP_000391.1:p.Ser630=