Canonical Allele Identifier: CA406362481

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855594T>G (hg19) ; chr19:g.45352336T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352336T>G , CM000681.2:g.45352336T>G	GRCh38
NC_000019.9:g.45855594T>G , CM000681.1:g.45855594T>G	GRCh37
NC_000019.8:g.50547434T>G	NCBI36
NG_007067.2:g.23252A>C , LRG_461:g.23252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2063A>C	ENSP00000375808.4:p.Asp688Ala
ENST00000682414.1:c.2063A>C	ENSP00000507019.1:p.Asp688Ala
ENST00000682508.1:n.2092A>C
ENST00000684218.1:c.*1321A>C	ENSP00000507804.1:n.*1321A>C
ENST00000684264.1:n.1619A>C
ENST00000684407.1:c.1940A>C	ENSP00000507775.1:p.Asp647Ala
ENST00000684458.1:c.*549A>C	ENSP00000508260.1:n.*549A>C
ENST00000684468.1:n.1775A>C
ENST00000391945.10:c.2063A>C MANE Select	ENSP00000375809.4:p.Asp688Ala
ENST00000646507.1:n.2160A>C
ENST00000391941.6:c.1991A>C	ENSP00000375805.2:p.Asp664Ala
ENST00000391942.6:n.1234A>C
ENST00000391944.7:c.1829A>C	ENSP00000375808.3:p.Asp610Ala
ENST00000391945.8:c.2063A>C	ENSP00000375809.3:p.Asp688Ala
ENST00000588652.5:n.2151A>C
NM_000400.3:c.2063A>C , LRG_461t1:c.2063A>C	NP_000391.1:p.Asp688Ala
XM_011526611.1:c.1985A>C	XP_011524913.1:p.Asp662Ala
XM_011526611.2:c.1985A>C	XP_011524913.1:p.Asp662Ala
XM_017026467.1:c.1940A>C	XP_016881956.1:p.Asp647Ala
XR_001753633.2:n.2110A>C
XR_001753634.2:n.2046A>C
NM_000400.4:c.2063A>C MANE Select	NP_000391.1:p.Asp688Ala