Canonical Allele Identifier: CA2580573375

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2429148
• ClinVar RCV Id: RCV003123387

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[45352249G>C;45357368G>C] , CM000681.2:g.[45352249G>C;45357368G>C]	GRCh38
NC_000019.9:g.[45855507G>C;45860626G>C] , CM000681.1:g.[45855507G>C;45860626G>C]	GRCh37
NC_000019.8:g.[50547347G>C;50552466G>C]	NCBI36
NG_007067.2:g.[18220C>G;23339C>G] , LRG_461:g.[18220C>G;23339C>G]

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.[1381C>G;2150C>G]	ENSP00000375808.4:p.[Leu461Val;Ala717Gly]...
ENST00000682414.1:c.[1381C>G;2150C>G]	ENSP00000507019.1:p.[Leu461Val;Ala717Gly]...
ENST00000682508.1:n.[1410C>G;2179C>G]
ENST00000684218.1:c.[*639C>G;*1408C>G]	ENSP00000507804.1:n.[*639C>G;*1408C>G]
ENST00000684264.1:n.[937C>G;1706C>G]
ENST00000684407.1:c.[1258C>G;2027C>G]	ENSP00000507775.1:p.[Leu420Val;Ala676Gly]...
ENST00000684458.1:c.[1311C>G;*636C>G]	ENSP00000508260.1:[p.His437Gln;n.*636C>G]...
ENST00000684468.1:n.[1157C>G;1862C>G]
ENST00000391945.10:c.[1381C>G;2150C>G] MANE Select	ENSP00000375809.4:p.[Leu461Val;Ala717Gly]...
ENST00000646507.1:n.[1478C>G;2247C>G]
ENST00000391941.6:c.[1309C>G;2078C>G]	ENSP00000375805.2:p.[Leu437Val;Ala693Gly]...
ENST00000391942.6:n.[552C>G;1321C>G]
ENST00000391944.7:c.[1147C>G;1916C>G]	ENSP00000375808.3:p.[Leu383Val;Ala639Gly]...
ENST00000391945.8:c.[1381C>G;2150C>G]	ENSP00000375809.3:p.[Leu461Val;Ala717Gly]...
ENST00000588652.5:n.[1469C>G;2238C>G]
NM_000400.3:c.[1381C>G;2150C>G] , LRG_461t1:c.[1381C>G;2150C>G]	NP_000391.1:p.[Leu461Val;Ala717Gly]
XM_011526611.1:c.[1303C>G;2072C>G]	XP_011524913.1:p.[Leu435Val;Ala691Gly]
XM_011526611.2:c.[1303C>G;2072C>G]	XP_011524913.1:p.[Leu435Val;Ala691Gly]
XM_017026467.1:c.[1258C>G;2027C>G]	XP_016881956.1:p.[Leu420Val;Ala676Gly]
XR_001753633.2:n.[1428C>G;2197C>G]
XR_001753634.2:n.[1428C>G;2133C>G]
NM_000400.4:c.[1381C>G;2150C>G] MANE Select	NP_000391.1:p.[Leu461Val;Ala717Gly]