Canonical Allele Identifier: CA507953311

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1785815
• ClinVar RCV Id: RCV002424127
• gnomAD v4: 19-45352302-C-T
• MyVariant Identifiers: chr19:g.45855560C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352302C>T , CM000681.2:g.45352302C>T	GRCh38
NC_000019.9:g.45855560C>T , CM000681.1:g.45855560C>T	GRCh37
NC_000019.8:g.50547400C>T	NCBI36
NG_007067.2:g.23286G>A , LRG_461:g.23286G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2097G>A	ENSP00000375808.4:p.Glu699=
ENST00000682414.1:c.2097G>A	ENSP00000507019.1:p.Glu699=
ENST00000682508.1:n.2126G>A
ENST00000684218.1:c.*1355G>A	ENSP00000507804.1:n.*1355G>A
ENST00000684264.1:n.1653G>A
ENST00000684407.1:c.1974G>A	ENSP00000507775.1:p.Glu658=
ENST00000684458.1:c.*583G>A	ENSP00000508260.1:n.*583G>A
ENST00000684468.1:n.1809G>A
ENST00000391945.10:c.2097G>A MANE Select	ENSP00000375809.4:p.Glu699=
ENST00000646507.1:n.2194G>A
ENST00000391941.6:c.2025G>A	ENSP00000375805.2:p.Glu675=
ENST00000391942.6:n.1268G>A
ENST00000391944.7:c.1863G>A	ENSP00000375808.3:p.Glu621=
ENST00000391945.8:c.2097G>A	ENSP00000375809.3:p.Glu699=
ENST00000588652.5:n.2185G>A
NM_000400.3:c.2097G>A , LRG_461t1:c.2097G>A	NP_000391.1:p.Glu699=
XM_011526611.1:c.2019G>A	XP_011524913.1:p.Glu673=
XM_011526611.2:c.2019G>A	XP_011524913.1:p.Glu673=
XM_017026467.1:c.1974G>A	XP_016881956.1:p.Glu658=
XR_001753633.2:n.2144G>A
XR_001753634.2:n.2080G>A
NM_000400.4:c.2097G>A MANE Select	NP_000391.1:p.Glu699=