Canonical Allele Identifier: CA9513120

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1679192
• ClinVar RCV Id: RCV002226635 ; RCV003471293
• dbSNP Id: rs760834687
• ExAC: 19:45856499 C / T
• gnomAD v2: 19-45856499-C-T
• gnomAD v3: 19-45353241-C-T
• gnomAD v4: 19-45353241-C-T
• COSMIC: COSM3823412
• MyVariant Identifiers: chr19:g.45856499C>T (hg19) ; chr19:g.45353241C>T (hg38)
• MutSpliceDB: CA9513120

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353241C>T , CM000681.2:g.45353241C>T	GRCh38
NC_000019.9:g.45856499C>T , CM000681.1:g.45856499C>T	GRCh37
NC_000019.8:g.50548339C>T	NCBI36
NG_007067.2:g.22347G>A , LRG_461:g.22347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1758+1G>A	ENSP00000375808.4:n.1758+1G>A
ENST00000682414.1:c.1758+1G>A	ENSP00000507019.1:n.1758+1G>A
ENST00000682508.1:n.1787+1G>A
ENST00000684218.1:c.*1016+1G>A	ENSP00000507804.1:n.*1016+1G>A
ENST00000684264.1:n.1314+1G>A
ENST00000684407.1:c.1635+1G>A	ENSP00000507775.1:n.1635+1G>A
ENST00000684458.1:c.*244+1G>A	ENSP00000508260.1:n.*244+1G>A
ENST00000684468.1:n.1470+1G>A
ENST00000391945.10:c.1758+1G>A MANE Select	ENSP00000375809.4:n.1758+1G>A
ENST00000587376.6:c.817+1G>A
ENST00000646507.1:n.1855+1G>A
ENST00000391941.6:c.1686+1G>A	ENSP00000375805.2:n.1686+1G>A
ENST00000391942.6:n.929+1G>A
ENST00000391944.7:c.1524+1G>A	ENSP00000375808.3:n.1524+1G>A
ENST00000391945.8:c.1758+1G>A	ENSP00000375809.3:n.1758+1G>A
ENST00000588652.5:n.1846+1G>A
NM_000400.3:c.1758+1G>A , LRG_461t1:c.1758+1G>A	NP_000391.1:n.1758+1G>A
XM_011526611.1:c.1680+1G>A	XP_011524913.1:n.1680+1G>A
XR_935763.1:n.1742G>A
XM_011526611.2:c.1680+1G>A	XP_011524913.1:n.1680+1G>A
XM_017026467.1:c.1635+1G>A	XP_016881956.1:n.1635+1G>A
XR_001753633.2:n.1805+1G>A
XR_001753634.2:n.1741+1G>A
NM_000400.4:c.1758+1G>A MANE Select	NP_000391.1:n.1758+1G>A