Canonical Allele Identifier: CA406362876

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855792T>A (hg19) ; chr19:g.45352534T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352534T>A , CM000681.2:g.45352534T>A	GRCh38
NC_000019.9:g.45855792T>A , CM000681.1:g.45855792T>A	GRCh37
NC_000019.8:g.50547632T>A	NCBI36
NG_007067.2:g.23054A>T , LRG_461:g.23054A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2018A>T	ENSP00000375808.4:p.Asp673Val
ENST00000682414.1:c.2018A>T	ENSP00000507019.1:p.Asp673Val
ENST00000682508.1:n.2047A>T
ENST00000684218.1:c.*1276A>T	ENSP00000507804.1:n.*1276A>T
ENST00000684264.1:n.1574A>T
ENST00000684407.1:c.1895A>T	ENSP00000507775.1:p.Asp632Val
ENST00000684458.1:c.*504A>T	ENSP00000508260.1:n.*504A>T
ENST00000684468.1:n.1730A>T
ENST00000391945.10:c.2018A>T MANE Select	ENSP00000375809.4:p.Asp673Val
ENST00000646507.1:n.2115A>T
ENST00000391941.6:c.1946A>T	ENSP00000375805.2:p.Asp649Val
ENST00000391942.6:n.1189A>T
ENST00000391944.7:c.1784A>T	ENSP00000375808.3:p.Asp595Val
ENST00000391945.8:c.2018A>T	ENSP00000375809.3:p.Asp673Val
ENST00000588652.5:n.2106A>T
NM_000400.3:c.2018A>T , LRG_461t1:c.2018A>T	NP_000391.1:p.Asp673Val
XM_011526611.1:c.1940A>T	XP_011524913.1:p.Asp647Val
XM_011526611.2:c.1940A>T	XP_011524913.1:p.Asp647Val
XM_017026467.1:c.1895A>T	XP_016881956.1:p.Asp632Val
XR_001753633.2:n.2065A>T
XR_001753634.2:n.2001A>T
NM_000400.4:c.2018A>T MANE Select	NP_000391.1:p.Asp673Val