Canonical Allele Identifier: CA308951355

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 997520
• ClinVar RCV Id: RCV001292729 ; RCV001780237 ; RCV002256728 ; RCV003469508 ; RCV004531070
• dbSNP Id: rs376556895
• gnomAD v2: 19-45856059-C-T
• gnomAD v3: 19-45352801-C-T
• gnomAD v4: 19-45352801-C-T
• MyVariant Identifiers: chr19:g.45856059C>T (hg19) ; chr19:g.45352801C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1847G>A	ENSP00000375808.4:p.Arg616Gln
ENST00000682414.1:c.1847G>A	ENSP00000507019.1:p.Arg616Gln
ENST00000682508.1:n.1876G>A
ENST00000684218.1:c.*1105G>A	ENSP00000507804.1:n.*1105G>A
ENST00000684264.1:n.1403G>A
ENST00000684407.1:c.1724G>A	ENSP00000507775.1:p.Arg575Gln
ENST00000684458.1:c.*333G>A	ENSP00000508260.1:n.*333G>A
ENST00000684468.1:n.1559G>A
ENST00000391945.10:c.1847G>A MANE Select	ENSP00000375809.4:p.Arg616Gln
ENST00000646507.1:n.1944G>A
ENST00000391941.6:c.1775G>A	ENSP00000375805.2:p.Arg592Gln
ENST00000391942.6:n.1018G>A
ENST00000391944.7:c.1613G>A	ENSP00000375808.3:p.Arg538Gln
ENST00000391945.8:c.1847G>A	ENSP00000375809.3:p.Arg616Gln
ENST00000588652.5:n.1935G>A
NM_000400.3:c.1847G>A , LRG_461t1:c.1847G>A	NP_000391.1:p.Arg616Gln
XM_011526611.1:c.1769G>A	XP_011524913.1:p.Arg590Gln
XM_011526611.2:c.1769G>A	XP_011524913.1:p.Arg590Gln
XM_017026467.1:c.1724G>A	XP_016881956.1:p.Arg575Gln
XR_001753633.2:n.1894G>A
XR_001753634.2:n.1830G>A
NM_000400.4:c.1847G>A MANE Select	NP_000391.1:p.Arg616Gln