Canonical Allele Identifier: CA2585785542

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352451-CAGCCTGGTTCTTGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352459_45352472del , CM000681.2:g.45352459_45352472del	GRCh38
NC_000019.9:g.45855717_45855730del , CM000681.1:g.45855717_45855730del	GRCh37
NC_000019.8:g.50547557_50547570del	NCBI36
NG_007067.2:g.23123_23136del , LRG_461:g.23123_23136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2046+41_2046+54del	ENSP00000375808.4:n.2046+41_2046+54del
ENST00000682414.1:c.2046+41_2046+54del	ENSP00000507019.1:n.2046+41_2046+54del
ENST00000682508.1:n.2075+41_2075+54del
ENST00000684218.1:c.*1304+41_*1304+54del	ENSP00000507804.1:n.*1304+41_*1304+54del
ENST00000684264.1:n.1602+41_1602+54del
ENST00000684407.1:c.1923+41_1923+54del	ENSP00000507775.1:n.1923+41_1923+54del
ENST00000684458.1:c.*532+41_*532+54del	ENSP00000508260.1:n.*532+41_*532+54del
ENST00000684468.1:n.1758+41_1758+54del
ENST00000391945.10:c.2046+41_2046+54del MANE Select	ENSP00000375809.4:n.2046+41_2046+54del
ENST00000646507.1:n.2143+41_2143+54del
ENST00000391941.6:c.1974+41_1974+54del	ENSP00000375805.2:n.1974+41_1974+54del
ENST00000391942.6:n.1217+41_1217+54del
ENST00000391944.7:c.1812+41_1812+54del	ENSP00000375808.3:n.1812+41_1812+54del
ENST00000391945.8:c.2046+41_2046+54del	ENSP00000375809.3:n.2046+41_2046+54del
ENST00000588652.5:n.2134+41_2134+54del
NM_000400.3:c.2046+41_2046+54del , LRG_461t1:c.2046+41_2046+54del	NP_000391.1:n.2046+41_2046+54del
XM_011526611.1:c.1968+41_1968+54del	XP_011524913.1:n.1968+41_1968+54del
XM_011526611.2:c.1968+41_1968+54del	XP_011524913.1:n.1968+41_1968+54del
XM_017026467.1:c.1923+41_1923+54del	XP_016881956.1:n.1923+41_1923+54del
XR_001753633.2:n.2093+41_2093+54del
XR_001753634.2:n.2029+41_2029+54del
NM_000400.4:c.2046+41_2046+54del MANE Select	NP_000391.1:n.2046+41_2046+54del