Canonical Allele Identifier: CA348385509

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 1713714
• ClinVar RCV Id: RCV002303070
• MyVariant Identifiers: chr2:g.128016879G>C (hg19) ; chr2:g.127259303G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127259303G>C , CM000664.2:g.127259303G>C	GRCh38
NC_000002.11:g.128016879G>C , CM000664.1:g.128016879G>C	GRCh37
NC_000002.10:g.127733349G>C	NCBI36
NG_007454.1:g.39874C>G , LRG_462:g.39874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.2210C>G MANE Select	ENSP00000285398.2:p.Ser737Cys
ENST00000644317.1:c.*1699C>G	ENSP00000494012.1:n.*1699C>G
ENST00000645233.1:c.*2422C>G	ENSP00000494116.1:n.*2422C>G
ENST00000645467.1:c.*982C>G	ENSP00000494889.1:n.*982C>G
ENST00000645736.1:c.1881C>G	ENSP00000494545.1:n.1881C>G
ENST00000646042.1:n.2945C>G
ENST00000646654.1:c.*1677C>G	ENSP00000494526.1:n.*1677C>G
ENST00000647169.1:c.2285C>G	ENSP00000495619.1:p.Ser762Cys
ENST00000647496.1:c.396-1701C>G
ENST00000285398.6:c.2210C>G	ENSP00000285398.2:p.Ser737Cys
ENST00000426778.5:c.*2191C>G	ENSP00000415335.1:n.*2191C>G
ENST00000445889.5:c.*2253C>G	ENSP00000390888.1:n.*2253C>G
ENST00000491292.5:n.3580C>G
NM_000122.1:c.2210C>G , LRG_462t1:c.2210C>G	NP_000113.1:p.Ser737Cys
NM_001303416.1:c.2018C>G	NP_001290345.1:p.Ser673Cys
NM_001303418.1:c.2018C>G	NP_001290347.1:p.Ser673Cys
XM_011510794.1:c.2228C>G	XP_011509096.1:p.Ser743Cys
XM_011510795.1:c.1772C>G	XP_011509097.1:p.Ser591Cys
XM_011510794.2:c.2228C>G	XP_011509096.1:p.Ser743Cys
XM_017003583.1:c.1754C>G	XP_016859072.1:p.Ser585Cys
NM_000122.2:c.2210C>G MANE Select	NP_000113.1:p.Ser737Cys
NM_001303416.2:c.2018C>G	NP_001290345.1:p.Ser673Cys
NM_001303418.2:c.2018C>G	NP_001290347.1:p.Ser673Cys