Canonical Allele Identifier: CA406363305

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1783350
• ClinVar RCV Id: RCV002421659
• gnomAD v4: 19-45352594-G-C
• MyVariant Identifiers: chr19:g.45855852G>C (hg19) ; chr19:g.45352594G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352594G>C , CM000681.2:g.45352594G>C	GRCh38
NC_000019.9:g.45855852G>C , CM000681.1:g.45855852G>C	GRCh37
NC_000019.8:g.50547692G>C	NCBI36
NG_007067.2:g.22994C>G , LRG_461:g.22994C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1958C>G	ENSP00000375808.4:p.Thr653Ser
ENST00000682414.1:c.1958C>G	ENSP00000507019.1:p.Thr653Ser
ENST00000682508.1:n.1987C>G
ENST00000684218.1:c.*1216C>G	ENSP00000507804.1:n.*1216C>G
ENST00000684264.1:n.1514C>G
ENST00000684407.1:c.1835C>G	ENSP00000507775.1:p.Thr612Ser
ENST00000684458.1:c.*444C>G	ENSP00000508260.1:n.*444C>G
ENST00000684468.1:n.1670C>G
ENST00000391945.10:c.1958C>G MANE Select	ENSP00000375809.4:p.Thr653Ser
ENST00000646507.1:n.2055C>G
ENST00000391941.6:c.1886C>G	ENSP00000375805.2:p.Thr629Ser
ENST00000391942.6:n.1129C>G
ENST00000391944.7:c.1724C>G	ENSP00000375808.3:p.Thr575Ser
ENST00000391945.8:c.1958C>G	ENSP00000375809.3:p.Thr653Ser
ENST00000588652.5:n.2046C>G
NM_000400.3:c.1958C>G , LRG_461t1:c.1958C>G	NP_000391.1:p.Thr653Ser
XM_011526611.1:c.1880C>G	XP_011524913.1:p.Thr627Ser
XM_011526611.2:c.1880C>G	XP_011524913.1:p.Thr627Ser
XM_017026467.1:c.1835C>G	XP_016881956.1:p.Thr612Ser
XR_001753633.2:n.2005C>G
XR_001753634.2:n.1941C>G
NM_000400.4:c.1958C>G MANE Select	NP_000391.1:p.Thr653Ser