Canonical Allele Identifier: CA158746

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 16779
• ClinVar RCV Id: RCV000018267 ; RCV000120764 ; RCV000171546 ; RCV000897210 ; RCV002256001 ; RCV002513097
• dbSNP Id: rs121913016
• ExAC: 19:45860626 G / C
• gnomAD v2: 19-45860626-G-C
• gnomAD v3: 19-45357368-G-C
• gnomAD v4: 19-45357368-G-C
• MyVariant Identifiers: chr19:g.45860626G>C (hg19) ; chr19:g.45357368G>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357368G>C , CM000681.2:g.45357368G>C	GRCh38
NC_000019.9:g.45860626G>C , CM000681.1:g.45860626G>C	GRCh37
NC_000019.8:g.50552466G>C	NCBI36
NG_007067.2:g.18220C>G , LRG_461:g.18220C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1381C>G	ENSP00000375808.4:p.Leu461Val
ENST00000682414.1:c.1381C>G	ENSP00000507019.1:p.Leu461Val
ENST00000682508.1:n.1410C>G
ENST00000684218.1:c.*639C>G	ENSP00000507804.1:n.*639C>G
ENST00000684264.1:n.937C>G
ENST00000684407.1:c.1258C>G	ENSP00000507775.1:p.Leu420Val
ENST00000684458.1:c.1311C>G	ENSP00000508260.1:p.His437Gln
ENST00000684468.1:n.1157C>G
ENST00000391945.10:c.1381C>G MANE Select	ENSP00000375809.4:p.Leu461Val
ENST00000587376.6:c.504C>G
ENST00000646507.1:n.1478C>G
ENST00000391941.6:c.1309C>G	ENSP00000375805.2:p.Leu437Val
ENST00000391942.6:n.552C>G
ENST00000391944.7:c.1147C>G	ENSP00000375808.3:p.Leu383Val
ENST00000391945.8:c.1381C>G	ENSP00000375809.3:p.Leu461Val
ENST00000587376.5:c.504C>G
ENST00000588652.5:n.1469C>G
NM_000400.3:c.1381C>G , LRG_461t1:c.1381C>G	NP_000391.1:p.Leu461Val
XM_011526611.1:c.1303C>G	XP_011524913.1:p.Leu435Val
XR_935763.1:n.1428C>G
XM_011526611.2:c.1303C>G	XP_011524913.1:p.Leu435Val
XM_017026467.1:c.1258C>G	XP_016881956.1:p.Leu420Val
XR_001753633.2:n.1428C>G
XR_001753634.2:n.1428C>G
NM_000400.4:c.1381C>G MANE Select	NP_000391.1:p.Leu461Val