Canonical Allele Identifier: CA406360940

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855483G>T (hg19) ; chr19:g.45352225G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352225G>T , CM000681.2:g.45352225G>T	GRCh38
NC_000019.9:g.45855483G>T , CM000681.1:g.45855483G>T	GRCh37
NC_000019.8:g.50547323G>T	NCBI36
NG_007067.2:g.23363C>A , LRG_461:g.23363C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2174C>A	ENSP00000375808.4:p.Ala725Glu
ENST00000682414.1:c.2174C>A	ENSP00000507019.1:p.Ala725Glu
ENST00000682508.1:n.2203C>A
ENST00000684218.1:c.*1432C>A	ENSP00000507804.1:n.*1432C>A
ENST00000684264.1:n.1730C>A
ENST00000684407.1:c.2051C>A	ENSP00000507775.1:p.Ala684Glu
ENST00000684458.1:c.*660C>A	ENSP00000508260.1:n.*660C>A
ENST00000684468.1:n.1886C>A
ENST00000391945.10:c.2174C>A MANE Select	ENSP00000375809.4:p.Ala725Glu
ENST00000646507.1:n.2271C>A
ENST00000391941.6:c.2102C>A	ENSP00000375805.2:p.Ala701Glu
ENST00000391942.6:n.1345C>A
ENST00000391944.7:c.1940C>A	ENSP00000375808.3:p.Ala647Glu
ENST00000391945.8:c.2174C>A	ENSP00000375809.3:p.Ala725Glu
ENST00000588652.5:n.2262C>A
NM_000400.3:c.2174C>A , LRG_461t1:c.2174C>A	NP_000391.1:p.Ala725Glu
XM_011526611.1:c.2096C>A	XP_011524913.1:p.Ala699Glu
XM_011526611.2:c.2096C>A	XP_011524913.1:p.Ala699Glu
XM_017026467.1:c.2051C>A	XP_016881956.1:p.Ala684Glu
XR_001753633.2:n.2221C>A
XR_001753634.2:n.2157C>A
NM_000400.4:c.2174C>A MANE Select	NP_000391.1:p.Ala725Glu