Canonical Allele Identifier: CA2814540057

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352441_45352451del , CM000681.2:g.45352441_45352451del	GRCh38
NC_000019.9:g.45855699_45855709del , CM000681.1:g.45855699_45855709del	GRCh37
NC_000019.8:g.50547539_50547549del	NCBI36
NG_007067.2:g.23137_23147del , LRG_461:g.23137_23147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2046+55_2046+65del	ENSP00000375808.4:n.2046+55_2046+65del
ENST00000682414.1:c.2046+55_2046+65del	ENSP00000507019.1:n.2046+55_2046+65del
ENST00000682508.1:n.2075+55_2075+65del
ENST00000684218.1:c.*1304+55_*1304+65del	ENSP00000507804.1:n.*1304+55_*1304+65del
ENST00000684264.1:n.1602+55_1602+65del
ENST00000684407.1:c.1923+55_1923+65del	ENSP00000507775.1:n.1923+55_1923+65del
ENST00000684458.1:c.*532+55_*532+65del	ENSP00000508260.1:n.*532+55_*532+65del
ENST00000684468.1:n.1758+55_1758+65del
ENST00000391945.10:c.2046+55_2046+65del MANE Select	ENSP00000375809.4:n.2046+55_2046+65del
ENST00000646507.1:n.2143+55_2143+65del
ENST00000391941.6:c.1974+55_1974+65del	ENSP00000375805.2:n.1974+55_1974+65del
ENST00000391942.6:n.1217+55_1217+65del
ENST00000391944.7:c.1812+55_1812+65del	ENSP00000375808.3:n.1812+55_1812+65del
ENST00000391945.8:c.2046+55_2046+65del	ENSP00000375809.3:n.2046+55_2046+65del
ENST00000588652.5:n.2134+55_2134+65del
NM_000400.3:c.2046+55_2046+65del , LRG_461t1:c.2046+55_2046+65del	NP_000391.1:n.2046+55_2046+65del
XM_011526611.1:c.1968+55_1968+65del	XP_011524913.1:n.1968+55_1968+65del
XM_011526611.2:c.1968+55_1968+65del	XP_011524913.1:n.1968+55_1968+65del
XM_017026467.1:c.1923+55_1923+65del	XP_016881956.1:n.1923+55_1923+65del
XR_001753633.2:n.2093+55_2093+65del
XR_001753634.2:n.2029+55_2029+65del
NM_000400.4:c.2046+55_2046+65del MANE Select	NP_000391.1:n.2046+55_2046+65del