Canonical Allele Identifier: CA2585785569

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2736906
• ClinVar RCV Id: RCV003560123
• gnomAD v4: 19-45352617-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352618_45352619del , CM000681.2:g.45352618_45352619del	GRCh38
NC_000019.9:g.45855876_45855877del , CM000681.1:g.45855876_45855877del	GRCh37
NC_000019.8:g.50547716_50547717del	NCBI36
NG_007067.2:g.22969_22970del , LRG_461:g.22969_22970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1933_1934del	ENSP00000375808.4:p.Gln645AspfsTer3
ENST00000682414.1:c.1933_1934del	ENSP00000507019.1:p.Gln645AspfsTer3
ENST00000682508.1:n.1962_1963del
ENST00000684218.1:c.*1191_*1192del	ENSP00000507804.1:n.*1191_*1192del
ENST00000684264.1:n.1489_1490del
ENST00000684407.1:c.1810_1811del	ENSP00000507775.1:p.Gln604AspfsTer3
ENST00000684458.1:c.*419_*420del	ENSP00000508260.1:n.*419_*420del
ENST00000684468.1:n.1645_1646del
ENST00000391945.10:c.1933_1934del MANE Select	ENSP00000375809.4:p.Gln645AspfsTer3
ENST00000646507.1:n.2030_2031del
ENST00000391941.6:c.1861_1862del	ENSP00000375805.2:p.Gln621AspfsTer3
ENST00000391942.6:n.1104_1105del
ENST00000391944.7:c.1699_1700del	ENSP00000375808.3:p.Gln567AspfsTer3
ENST00000391945.8:c.1933_1934del	ENSP00000375809.3:p.Gln645AspfsTer3
ENST00000588652.5:n.2021_2022del
NM_000400.3:c.1933_1934del , LRG_461t1:c.1933_1934del	NP_000391.1:p.Gln645AspfsTer3
XM_011526611.1:c.1855_1856del	XP_011524913.1:p.Gln619AspfsTer3
XM_011526611.2:c.1855_1856del	XP_011524913.1:p.Gln619AspfsTer3
XM_017026467.1:c.1810_1811del	XP_016881956.1:p.Gln604AspfsTer3
XR_001753633.2:n.1980_1981del
XR_001753634.2:n.1916_1917del
NM_000400.4:c.1933_1934del MANE Select	NP_000391.1:p.Gln645AspfsTer3