Canonical Allele Identifier: CA2585785441

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352137-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352137G>C , CM000681.2:g.45352137G>C	GRCh38
NC_000019.9:g.45855395G>C , CM000681.1:g.45855395G>C	GRCh37
NC_000019.8:g.50547235G>C	NCBI36
NG_007067.2:g.23451C>G , LRG_461:g.23451C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2262C>G	ENSP00000375808.4:p.Leu754=
ENST00000682414.1:c.2190+72C>G	ENSP00000507019.1:n.2190+72C>G
ENST00000682508.1:n.2219+72C>G
ENST00000684218.1:c.*1448+72C>G	ENSP00000507804.1:n.*1448+72C>G
ENST00000684264.1:n.1746+72C>G
ENST00000684407.1:c.2067+72C>G	ENSP00000507775.1:n.2067+72C>G
ENST00000684458.1:c.*676+72C>G	ENSP00000508260.1:n.*676+72C>G
ENST00000684468.1:n.1902+72C>G
ENST00000391945.10:c.2190+72C>G MANE Select	ENSP00000375809.4:n.2190+72C>G
ENST00000646507.1:n.2287+72C>G
ENST00000391942.6:n.1361+72C>G
ENST00000391944.7:c.1956+72C>G	ENSP00000375808.3:n.1956+72C>G
ENST00000391945.8:c.2190+72C>G	ENSP00000375809.3:n.2190+72C>G
ENST00000588652.5:n.2278+72C>G
NM_000400.3:c.2190+72C>G , LRG_461t1:c.2190+72C>G	NP_000391.1:n.2190+72C>G
XM_011526611.1:c.2112+72C>G	XP_011524913.1:n.2112+72C>G
XM_011526611.2:c.2112+72C>G	XP_011524913.1:n.2112+72C>G
XM_017026467.1:c.2067+72C>G	XP_016881956.1:n.2067+72C>G
XR_001753633.2:n.2237+72C>G
XR_001753634.2:n.2173+72C>G
NM_000400.4:c.2190+72C>G MANE Select	NP_000391.1:n.2190+72C>G