Canonical Allele Identifier: CA308950078

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2906980
• ClinVar RCV Id: RCV003734455 ; RCV004374233
• dbSNP Id: rs999439847
• gnomAD v4: 19-45352269-C-T
• MyVariant Identifiers: chr19:g.45855527C>T (hg19) ; chr19:g.45352269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352269C>T , CM000681.2:g.45352269C>T	GRCh38
NC_000019.9:g.45855527C>T , CM000681.1:g.45855527C>T	GRCh37
NC_000019.8:g.50547367C>T	NCBI36
NG_007067.2:g.23319G>A , LRG_461:g.23319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2130G>A	ENSP00000375808.4:p.Val710=
ENST00000682414.1:c.2130G>A	ENSP00000507019.1:p.Val710=
ENST00000682508.1:n.2159G>A
ENST00000684218.1:c.*1388G>A	ENSP00000507804.1:n.*1388G>A
ENST00000684264.1:n.1686G>A
ENST00000684407.1:c.2007G>A	ENSP00000507775.1:p.Val669=
ENST00000684458.1:c.*616G>A	ENSP00000508260.1:n.*616G>A
ENST00000684468.1:n.1842G>A
ENST00000391945.10:c.2130G>A MANE Select	ENSP00000375809.4:p.Val710=
ENST00000646507.1:n.2227G>A
ENST00000391941.6:c.2058G>A	ENSP00000375805.2:p.Val686=
ENST00000391942.6:n.1301G>A
ENST00000391944.7:c.1896G>A	ENSP00000375808.3:p.Val632=
ENST00000391945.8:c.2130G>A	ENSP00000375809.3:p.Val710=
ENST00000588652.5:n.2218G>A
NM_000400.3:c.2130G>A , LRG_461t1:c.2130G>A	NP_000391.1:p.Val710=
XM_011526611.1:c.2052G>A	XP_011524913.1:p.Val684=
XM_011526611.2:c.2052G>A	XP_011524913.1:p.Val684=
XM_017026467.1:c.2007G>A	XP_016881956.1:p.Val669=
XR_001753633.2:n.2177G>A
XR_001753634.2:n.2113G>A
NM_000400.4:c.2130G>A MANE Select	NP_000391.1:p.Val710=