Canonical Allele Identifier: CA2585785389

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352093-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352093T>C , CM000681.2:g.45352093T>C	GRCh38
NC_000019.9:g.45855351T>C , CM000681.1:g.45855351T>C	GRCh37
NC_000019.8:g.50547191T>C	NCBI36
NG_007067.2:g.23495A>G , LRG_461:g.23495A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2306A>G	ENSP00000375808.4:p.Lys769Arg
ENST00000682414.1:c.2190+116A>G	ENSP00000507019.1:n.2190+116A>G
ENST00000682508.1:n.2219+116A>G
ENST00000684218.1:c.*1448+116A>G	ENSP00000507804.1:n.*1448+116A>G
ENST00000684264.1:n.1746+116A>G
ENST00000684407.1:c.2067+116A>G	ENSP00000507775.1:n.2067+116A>G
ENST00000684458.1:c.*676+116A>G	ENSP00000508260.1:n.*676+116A>G
ENST00000684468.1:n.1902+116A>G
ENST00000391945.10:c.2190+116A>G MANE Select	ENSP00000375809.4:n.2190+116A>G
ENST00000646507.1:n.2287+116A>G
ENST00000391942.6:n.1361+116A>G
ENST00000391944.7:c.1956+116A>G	ENSP00000375808.3:n.1956+116A>G
ENST00000391945.8:c.2190+116A>G	ENSP00000375809.3:n.2190+116A>G
ENST00000588652.5:n.2278+116A>G
NM_000400.3:c.2190+116A>G , LRG_461t1:c.2190+116A>G	NP_000391.1:n.2190+116A>G
XM_011526611.1:c.2112+116A>G	XP_011524913.1:n.2112+116A>G
XM_011526611.2:c.2112+116A>G	XP_011524913.1:n.2112+116A>G
XM_017026467.1:c.2067+116A>G	XP_016881956.1:n.2067+116A>G
XR_001753633.2:n.2237+116A>G
XR_001753634.2:n.2173+116A>G
NM_000400.4:c.2190+116A>G MANE Select	NP_000391.1:n.2190+116A>G