Canonical Allele Identifier: CA9513023

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1781391
• ClinVar RCV Id: RCV002413078
• dbSNP Id: rs769584706
• ExAC: 19:45856051 T / C
• gnomAD v2: 19-45856051-T-C
• gnomAD v3: 19-45352793-T-C
• gnomAD v4: 19-45352793-T-C
• MyVariant Identifiers: chr19:g.45856051T>C (hg19) ; chr19:g.45352793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352793T>C , CM000681.2:g.45352793T>C	GRCh38
NC_000019.9:g.45856051T>C , CM000681.1:g.45856051T>C	GRCh37
NC_000019.8:g.50547891T>C	NCBI36
NG_007067.2:g.22795A>G , LRG_461:g.22795A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1855A>G	ENSP00000375808.4:p.Ile619Val
ENST00000682414.1:c.1855A>G	ENSP00000507019.1:p.Ile619Val
ENST00000682508.1:n.1884A>G
ENST00000684218.1:c.*1113A>G	ENSP00000507804.1:n.*1113A>G
ENST00000684264.1:n.1411A>G
ENST00000684407.1:c.1732A>G	ENSP00000507775.1:p.Ile578Val
ENST00000684458.1:c.*341A>G	ENSP00000508260.1:n.*341A>G
ENST00000684468.1:n.1567A>G
ENST00000391945.10:c.1855A>G MANE Select	ENSP00000375809.4:p.Ile619Val
ENST00000646507.1:n.1952A>G
ENST00000391941.6:c.1783A>G	ENSP00000375805.2:p.Ile595Val
ENST00000391942.6:n.1026A>G
ENST00000391944.7:c.1621A>G	ENSP00000375808.3:p.Ile541Val
ENST00000391945.8:c.1855A>G	ENSP00000375809.3:p.Ile619Val
ENST00000588652.5:n.1943A>G
NM_000400.3:c.1855A>G , LRG_461t1:c.1855A>G	NP_000391.1:p.Ile619Val
XM_011526611.1:c.1777A>G	XP_011524913.1:p.Ile593Val
XM_011526611.2:c.1777A>G	XP_011524913.1:p.Ile593Val
XM_017026467.1:c.1732A>G	XP_016881956.1:p.Ile578Val
XR_001753633.2:n.1902A>G
XR_001753634.2:n.1838A>G
NM_000400.4:c.1855A>G MANE Select	NP_000391.1:p.Ile619Val