Canonical Allele Identifier: CA2585785532

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352439-ATGAACGGGAAACAGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352442_45352457del , CM000681.2:g.45352442_45352457del	GRCh38
NC_000019.9:g.45855700_45855715del , CM000681.1:g.45855700_45855715del	GRCh37
NC_000019.8:g.50547540_50547555del	NCBI36
NG_007067.2:g.23133_23148del , LRG_461:g.23133_23148del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2046+51_2046+66del	ENSP00000375808.4:n.2046+51_2046+66del
ENST00000682414.1:c.2046+51_2046+66del	ENSP00000507019.1:n.2046+51_2046+66del
ENST00000682508.1:n.2075+51_2075+66del
ENST00000684218.1:c.*1304+51_*1304+66del	ENSP00000507804.1:n.*1304+51_*1304+66del
ENST00000684264.1:n.1602+51_1602+66del
ENST00000684407.1:c.1923+51_1923+66del	ENSP00000507775.1:n.1923+51_1923+66del
ENST00000684458.1:c.*532+51_*532+66del	ENSP00000508260.1:n.*532+51_*532+66del
ENST00000684468.1:n.1758+51_1758+66del
ENST00000391945.10:c.2046+51_2046+66del MANE Select	ENSP00000375809.4:n.2046+51_2046+66del
ENST00000646507.1:n.2143+51_2143+66del
ENST00000391941.6:c.1974+51_1974+66del	ENSP00000375805.2:n.1974+51_1974+66del
ENST00000391942.6:n.1217+51_1217+66del
ENST00000391944.7:c.1812+51_1812+66del	ENSP00000375808.3:n.1812+51_1812+66del
ENST00000391945.8:c.2046+51_2046+66del	ENSP00000375809.3:n.2046+51_2046+66del
ENST00000588652.5:n.2134+51_2134+66del
NM_000400.3:c.2046+51_2046+66del , LRG_461t1:c.2046+51_2046+66del	NP_000391.1:n.2046+51_2046+66del
XM_011526611.1:c.1968+51_1968+66del	XP_011524913.1:n.1968+51_1968+66del
XM_011526611.2:c.1968+51_1968+66del	XP_011524913.1:n.1968+51_1968+66del
XM_017026467.1:c.1923+51_1923+66del	XP_016881956.1:n.1923+51_1923+66del
XR_001753633.2:n.2093+51_2093+66del
XR_001753634.2:n.2029+51_2029+66del
NM_000400.4:c.2046+51_2046+66del MANE Select	NP_000391.1:n.2046+51_2046+66del