Canonical Allele Identifier: CA406362501

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2562296
• ClinVar RCV Id: RCV003310356
• dbSNP Id: rs1390225215
• gnomAD v2: 19-45855597-C-T
• gnomAD v4: 19-45352339-C-T
• MyVariant Identifiers: chr19:g.45855597C>T (hg19) ; chr19:g.45352339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352339C>T , CM000681.2:g.45352339C>T	GRCh38
NC_000019.9:g.45855597C>T , CM000681.1:g.45855597C>T	GRCh37
NC_000019.8:g.50547437C>T	NCBI36
NG_007067.2:g.23249G>A , LRG_461:g.23249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2060G>A	ENSP00000375808.4:p.Gly687Glu
ENST00000682414.1:c.2060G>A	ENSP00000507019.1:p.Gly687Glu
ENST00000682508.1:n.2089G>A
ENST00000684218.1:c.*1318G>A	ENSP00000507804.1:n.*1318G>A
ENST00000684264.1:n.1616G>A
ENST00000684407.1:c.1937G>A	ENSP00000507775.1:p.Gly646Glu
ENST00000684458.1:c.*546G>A	ENSP00000508260.1:n.*546G>A
ENST00000684468.1:n.1772G>A
ENST00000391945.10:c.2060G>A MANE Select	ENSP00000375809.4:p.Gly687Glu
ENST00000646507.1:n.2157G>A
ENST00000391941.6:c.1988G>A	ENSP00000375805.2:p.Gly663Glu
ENST00000391942.6:n.1231G>A
ENST00000391944.7:c.1826G>A	ENSP00000375808.3:p.Gly609Glu
ENST00000391945.8:c.2060G>A	ENSP00000375809.3:p.Gly687Glu
ENST00000588652.5:n.2148G>A
NM_000400.3:c.2060G>A , LRG_461t1:c.2060G>A	NP_000391.1:p.Gly687Glu
XM_011526611.1:c.1982G>A	XP_011524913.1:p.Gly661Glu
XM_011526611.2:c.1982G>A	XP_011524913.1:p.Gly661Glu
XM_017026467.1:c.1937G>A	XP_016881956.1:p.Gly646Glu
XR_001753633.2:n.2107G>A
XR_001753634.2:n.2043G>A
NM_000400.4:c.2060G>A MANE Select	NP_000391.1:p.Gly687Glu