Canonical Allele Identifier: CA2585785534

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352440-TGAACGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352444_45352449del , CM000681.2:g.45352444_45352449del	GRCh38
NC_000019.9:g.45855702_45855707del , CM000681.1:g.45855702_45855707del	GRCh37
NC_000019.8:g.50547542_50547547del	NCBI36
NG_007067.2:g.23142_23147del , LRG_461:g.23142_23147del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2046+60_2046+65del	ENSP00000375808.4:n.2046+60_2046+65del
ENST00000682414.1:c.2046+60_2046+65del	ENSP00000507019.1:n.2046+60_2046+65del
ENST00000682508.1:n.2075+60_2075+65del
ENST00000684218.1:c.*1304+60_*1304+65del	ENSP00000507804.1:n.*1304+60_*1304+65del
ENST00000684264.1:n.1602+60_1602+65del
ENST00000684407.1:c.1923+60_1923+65del	ENSP00000507775.1:n.1923+60_1923+65del
ENST00000684458.1:c.*532+60_*532+65del	ENSP00000508260.1:n.*532+60_*532+65del
ENST00000684468.1:n.1758+60_1758+65del
ENST00000391945.10:c.2046+60_2046+65del MANE Select	ENSP00000375809.4:n.2046+60_2046+65del
ENST00000646507.1:n.2143+60_2143+65del
ENST00000391941.6:c.1974+60_1974+65del	ENSP00000375805.2:n.1974+60_1974+65del
ENST00000391942.6:n.1217+60_1217+65del
ENST00000391944.7:c.1812+60_1812+65del	ENSP00000375808.3:n.1812+60_1812+65del
ENST00000391945.8:c.2046+60_2046+65del	ENSP00000375809.3:n.2046+60_2046+65del
ENST00000588652.5:n.2134+60_2134+65del
NM_000400.3:c.2046+60_2046+65del , LRG_461t1:c.2046+60_2046+65del	NP_000391.1:n.2046+60_2046+65del
XM_011526611.1:c.1968+60_1968+65del	XP_011524913.1:n.1968+60_1968+65del
XM_011526611.2:c.1968+60_1968+65del	XP_011524913.1:n.1968+60_1968+65del
XM_017026467.1:c.1923+60_1923+65del	XP_016881956.1:n.1923+60_1923+65del
XR_001753633.2:n.2093+60_2093+65del
XR_001753634.2:n.2029+60_2029+65del
NM_000400.4:c.2046+60_2046+65del MANE Select	NP_000391.1:n.2046+60_2046+65del