Canonical Allele Identifier: CA2585785485

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352275-CAGGTTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352282_45352287del , CM000681.2:g.45352282_45352287del	GRCh38
NC_000019.9:g.45855540_45855545del , CM000681.1:g.45855540_45855545del	GRCh37
NC_000019.8:g.50547380_50547385del	NCBI36
NG_007067.2:g.23307_23312del , LRG_461:g.23307_23312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2118_2123del	ENSP00000375808.4:p.Asn707_Leu708del
ENST00000682414.1:c.2118_2123del	ENSP00000507019.1:p.Asn707_Leu708del
ENST00000682508.1:n.2147_2152del
ENST00000684218.1:c.*1376_*1381del	ENSP00000507804.1:n.*1376_*1381del
ENST00000684264.1:n.1674_1679del
ENST00000684407.1:c.1995_2000del	ENSP00000507775.1:p.Asn666_Leu667del
ENST00000684458.1:c.*604_*609del	ENSP00000508260.1:n.*604_*609del
ENST00000684468.1:n.1830_1835del
ENST00000391945.10:c.2118_2123del MANE Select	ENSP00000375809.4:p.Asn707_Leu708del
ENST00000646507.1:n.2215_2220del
ENST00000391941.6:c.2046_2051del	ENSP00000375805.2:p.Asn683_Leu684del
ENST00000391942.6:n.1289_1294del
ENST00000391944.7:c.1884_1889del	ENSP00000375808.3:p.Asn629_Leu630del
ENST00000391945.8:c.2118_2123del	ENSP00000375809.3:p.Asn707_Leu708del
ENST00000588652.5:n.2206_2211del
NM_000400.3:c.2118_2123del , LRG_461t1:c.2118_2123del	NP_000391.1:p.Asn707_Leu708del
XM_011526611.1:c.2040_2045del	XP_011524913.1:p.Asn681_Leu682del
XM_011526611.2:c.2040_2045del	XP_011524913.1:p.Asn681_Leu682del
XM_017026467.1:c.1995_2000del	XP_016881956.1:p.Asn666_Leu667del
XR_001753633.2:n.2165_2170del
XR_001753634.2:n.2101_2106del
NM_000400.4:c.2118_2123del MANE Select	NP_000391.1:p.Asn707_Leu708del