Canonical Allele Identifier: CA9513025

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 329508
• ClinVar RCV Id: RCV000312948 ; RCV000489442 ; RCV000763054 ; RCV001195426 ; RCV003470315 ; RCV002523070
• dbSNP Id: rs376556895
• ExAC: 19:45856059 C / G
• gnomAD v2: 19-45856059-C-G
• gnomAD v3: 19-45352801-C-G
• gnomAD v4: 19-45352801-C-G
• COSMIC: COSM1681129
• MyVariant Identifiers: chr19:g.45856059C>G (hg19) ; chr19:g.45352801C>G (hg38)
• PubMed: PMID:9238033 ; PMID:11710928 ; PMID:12820975 ; PMID:22826098 ; PMID:24252196 ; PMID:27004399

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352801C>G , CM000681.2:g.45352801C>G	GRCh38
NC_000019.9:g.45856059C>G , CM000681.1:g.45856059C>G	GRCh37
NC_000019.8:g.50547899C>G	NCBI36
NG_007067.2:g.22787G>C , LRG_461:g.22787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1847G>C	ENSP00000375808.4:p.Arg616Pro
ENST00000682414.1:c.1847G>C	ENSP00000507019.1:p.Arg616Pro
ENST00000682508.1:n.1876G>C
ENST00000684218.1:c.*1105G>C	ENSP00000507804.1:n.*1105G>C
ENST00000684264.1:n.1403G>C
ENST00000684407.1:c.1724G>C	ENSP00000507775.1:p.Arg575Pro
ENST00000684458.1:c.*333G>C	ENSP00000508260.1:n.*333G>C
ENST00000684468.1:n.1559G>C
ENST00000391945.10:c.1847G>C MANE Select	ENSP00000375809.4:p.Arg616Pro
ENST00000646507.1:n.1944G>C
ENST00000391941.6:c.1775G>C	ENSP00000375805.2:p.Arg592Pro
ENST00000391942.6:n.1018G>C
ENST00000391944.7:c.1613G>C	ENSP00000375808.3:p.Arg538Pro
ENST00000391945.8:c.1847G>C	ENSP00000375809.3:p.Arg616Pro
ENST00000588652.5:n.1935G>C
NM_000400.3:c.1847G>C , LRG_461t1:c.1847G>C	NP_000391.1:p.Arg616Pro
XM_011526611.1:c.1769G>C	XP_011524913.1:p.Arg590Pro
XM_011526611.2:c.1769G>C	XP_011524913.1:p.Arg590Pro
XM_017026467.1:c.1724G>C	XP_016881956.1:p.Arg575Pro
XR_001753633.2:n.1894G>C
XR_001753634.2:n.1830G>C
NM_000400.4:c.1847G>C MANE Select	NP_000391.1:p.Arg616Pro