Canonical Allele Identifier: CA348386980

Gene: ERCC3

Linked Data

• ClinVar Variation Id: 1713761
• ClinVar RCV Id: RCV002303102
• MyVariant Identifiers: chr2:g.128028913T>G (hg19) ; chr2:g.127271337T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127271337T>G , CM000664.2:g.127271337T>G	GRCh38
NC_000002.11:g.128028913T>G , CM000664.1:g.128028913T>G	GRCh37
NC_000002.10:g.127745383T>G	NCBI36
NG_007454.1:g.27840A>C , LRG_462:g.27840A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285398.7:c.1944A>C MANE Select	ENSP00000285398.2:p.Lys648Asn
ENST00000642972.1:n.303A>C
ENST00000644317.1:c.*1433A>C	ENSP00000494012.1:n.*1433A>C
ENST00000645233.1:c.*2156A>C	ENSP00000494116.1:n.*2156A>C
ENST00000645467.1:c.*716A>C	ENSP00000494889.1:n.*716A>C
ENST00000645504.1:c.600A>C
ENST00000645736.1:c.1615A>C	ENSP00000494545.1:n.1615A>C
ENST00000646042.1:n.2679A>C
ENST00000646654.1:c.*1411A>C	ENSP00000494526.1:n.*1411A>C
ENST00000647169.1:c.2019A>C	ENSP00000495619.1:p.Lys673Asn
ENST00000647496.1:c.396-13735A>C
ENST00000285398.6:c.1944A>C	ENSP00000285398.2:p.Lys648Asn
ENST00000426778.5:c.*1925A>C	ENSP00000415335.1:n.*1925A>C
ENST00000445889.5:c.*1987A>C	ENSP00000390888.1:n.*1987A>C
NM_000122.1:c.1944A>C , LRG_462t1:c.1944A>C	NP_000113.1:p.Lys648Asn
NM_001303416.1:c.1752A>C	NP_001290345.1:p.Lys584Asn
NM_001303418.1:c.1752A>C	NP_001290347.1:p.Lys584Asn
XM_011510794.1:c.1962A>C	XP_011509096.1:p.Lys654Asn
XM_011510795.1:c.1506A>C	XP_011509097.1:p.Lys502Asn
XM_011510794.2:c.1962A>C	XP_011509096.1:p.Lys654Asn
XM_017003583.1:c.1488A>C	XP_016859072.1:p.Lys496Asn
NM_000122.2:c.1944A>C MANE Select	NP_000113.1:p.Lys648Asn
NM_001303416.2:c.1752A>C	NP_001290345.1:p.Lys584Asn
NM_001303418.2:c.1752A>C	NP_001290347.1:p.Lys584Asn