Canonical Allele Identifier: CA9512872

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1786529
• ClinVar RCV Id: RCV002430494 ; RCV003730198
• dbSNP Id: rs772055555
• ExAC: 19:45855518 A / C
• gnomAD v2: 19-45855518-A-C
• gnomAD v3: 19-45352260-A-C
• gnomAD v4: 19-45352260-A-C
• MyVariant Identifiers: chr19:g.45855518A>C (hg19) ; chr19:g.45352260A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352260A>C , CM000681.2:g.45352260A>C	GRCh38
NC_000019.9:g.45855518A>C , CM000681.1:g.45855518A>C	GRCh37
NC_000019.8:g.50547358A>C	NCBI36
NG_007067.2:g.23328T>G , LRG_461:g.23328T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2139T>G	ENSP00000375808.4:p.Gly713=
ENST00000682414.1:c.2139T>G	ENSP00000507019.1:p.Gly713=
ENST00000682508.1:n.2168T>G
ENST00000684218.1:c.*1397T>G	ENSP00000507804.1:n.*1397T>G
ENST00000684264.1:n.1695T>G
ENST00000684407.1:c.2016T>G	ENSP00000507775.1:p.Gly672=
ENST00000684458.1:c.*625T>G	ENSP00000508260.1:n.*625T>G
ENST00000684468.1:n.1851T>G
ENST00000391945.10:c.2139T>G MANE Select	ENSP00000375809.4:p.Gly713=
ENST00000646507.1:n.2236T>G
ENST00000391941.6:c.2067T>G	ENSP00000375805.2:p.Gly689=
ENST00000391942.6:n.1310T>G
ENST00000391944.7:c.1905T>G	ENSP00000375808.3:p.Gly635=
ENST00000391945.8:c.2139T>G	ENSP00000375809.3:p.Gly713=
ENST00000588652.5:n.2227T>G
NM_000400.3:c.2139T>G , LRG_461t1:c.2139T>G	NP_000391.1:p.Gly713=
XM_011526611.1:c.2061T>G	XP_011524913.1:p.Gly687=
XM_011526611.2:c.2061T>G	XP_011524913.1:p.Gly687=
XM_017026467.1:c.2016T>G	XP_016881956.1:p.Gly672=
XR_001753633.2:n.2186T>G
XR_001753634.2:n.2122T>G
NM_000400.4:c.2139T>G MANE Select	NP_000391.1:p.Gly713=