Canonical Allele Identifier: CA2338389039

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352788_45352791delinsCATG , CM000681.2:g.45352788_45352791delinsCATG	GRCh38
NC_000019.9:g.45856046_45856049delinsCATG , CM000681.1:g.45856046_45856049delinsCATG	GRCh37
NC_000019.8:g.50547886_50547889delinsCATG	NCBI36
NG_007067.2:g.22797_22800delinsCATG , LRG_461:g.22797_22800delinsCATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1857_1860delinsCATG	ENSP00000375808.4:p.Ile619=
ENST00000682414.1:c.1857_1860delinsCATG	ENSP00000507019.1:p.Ile619=
ENST00000682508.1:n.1886_1889delinsCATG
ENST00000684218.1:c.*1115_*1118delinsCATG	ENSP00000507804.1:n.*1115_*1118delinsCATG
ENST00000684264.1:n.1413_1416delinsCATG
ENST00000684407.1:c.1734_1737delinsCATG	ENSP00000507775.1:p.Ile578=
ENST00000684458.1:c.*343_*346delinsCATG	ENSP00000508260.1:n.*343_*346delinsCATG
ENST00000684468.1:n.1569_1572delinsCATG
ENST00000391945.10:c.1857_1860delinsCATG MANE Select	ENSP00000375809.4:p.Ile619=
ENST00000646507.1:n.1954_1957delinsCATG
ENST00000391941.6:c.1785_1788delinsCATG	ENSP00000375805.2:p.Ile595=
ENST00000391942.6:n.1028_1031delinsCATG
ENST00000391944.7:c.1623_1626delinsCATG	ENSP00000375808.3:p.Ile541=
ENST00000391945.8:c.1857_1860delinsCATG	ENSP00000375809.3:p.Ile619=
ENST00000588652.5:n.1945_1948delinsCATG
NM_000400.3:c.1857_1860delinsCATG , LRG_461t1:c.1857_1860delinsCATG	NP_000391.1:p.Ile619=
XM_011526611.1:c.1779_1782delinsCATG	XP_011524913.1:p.Ile593=
XM_011526611.2:c.1779_1782delinsCATG	XP_011524913.1:p.Ile593=
XM_017026467.1:c.1734_1737delinsCATG	XP_016881956.1:p.Ile578=
XR_001753633.2:n.1904_1907delinsCATG
XR_001753634.2:n.1840_1843delinsCATG
NM_000400.4:c.1857_1860delinsCATG MANE Select	NP_000391.1:p.Ile619=