Canonical Allele Identifier: CA2585785539

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352449-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352449A>C , CM000681.2:g.45352449A>C	GRCh38
NC_000019.9:g.45855707A>C , CM000681.1:g.45855707A>C	GRCh37
NC_000019.8:g.50547547A>C	NCBI36
NG_007067.2:g.23139T>G , LRG_461:g.23139T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2046+57T>G	ENSP00000375808.4:n.2046+57T>G
ENST00000682414.1:c.2046+57T>G	ENSP00000507019.1:n.2046+57T>G
ENST00000682508.1:n.2075+57T>G
ENST00000684218.1:c.*1304+57T>G	ENSP00000507804.1:n.*1304+57T>G
ENST00000684264.1:n.1602+57T>G
ENST00000684407.1:c.1923+57T>G	ENSP00000507775.1:n.1923+57T>G
ENST00000684458.1:c.*532+57T>G	ENSP00000508260.1:n.*532+57T>G
ENST00000684468.1:n.1758+57T>G
ENST00000391945.10:c.2046+57T>G MANE Select	ENSP00000375809.4:n.2046+57T>G
ENST00000646507.1:n.2143+57T>G
ENST00000391941.6:c.1974+57T>G	ENSP00000375805.2:n.1974+57T>G
ENST00000391942.6:n.1217+57T>G
ENST00000391944.7:c.1812+57T>G	ENSP00000375808.3:n.1812+57T>G
ENST00000391945.8:c.2046+57T>G	ENSP00000375809.3:n.2046+57T>G
ENST00000588652.5:n.2134+57T>G
NM_000400.3:c.2046+57T>G , LRG_461t1:c.2046+57T>G	NP_000391.1:n.2046+57T>G
XM_011526611.1:c.1968+57T>G	XP_011524913.1:n.1968+57T>G
XM_011526611.2:c.1968+57T>G	XP_011524913.1:n.1968+57T>G
XM_017026467.1:c.1923+57T>G	XP_016881956.1:n.1923+57T>G
XR_001753633.2:n.2093+57T>G
XR_001753634.2:n.2029+57T>G
NM_000400.4:c.2046+57T>G MANE Select	NP_000391.1:n.2046+57T>G