Canonical Allele Identifier: CA406363069

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855820C>A (hg19) ; chr19:g.45352562C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352562C>A , CM000681.2:g.45352562C>A	GRCh38
NC_000019.9:g.45855820C>A , CM000681.1:g.45855820C>A	GRCh37
NC_000019.8:g.50547660C>A	NCBI36
NG_007067.2:g.23026G>T , LRG_461:g.23026G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1990G>T	ENSP00000375808.4:p.Val664Leu
ENST00000682414.1:c.1990G>T	ENSP00000507019.1:p.Val664Leu
ENST00000682508.1:n.2019G>T
ENST00000684218.1:c.*1248G>T	ENSP00000507804.1:n.*1248G>T
ENST00000684264.1:n.1546G>T
ENST00000684407.1:c.1867G>T	ENSP00000507775.1:p.Val623Leu
ENST00000684458.1:c.*476G>T	ENSP00000508260.1:n.*476G>T
ENST00000684468.1:n.1702G>T
ENST00000391945.10:c.1990G>T MANE Select	ENSP00000375809.4:p.Val664Leu
ENST00000646507.1:n.2087G>T
ENST00000391941.6:c.1918G>T	ENSP00000375805.2:p.Val640Leu
ENST00000391942.6:n.1161G>T
ENST00000391944.7:c.1756G>T	ENSP00000375808.3:p.Val586Leu
ENST00000391945.8:c.1990G>T	ENSP00000375809.3:p.Val664Leu
ENST00000588652.5:n.2078G>T
NM_000400.3:c.1990G>T , LRG_461t1:c.1990G>T	NP_000391.1:p.Val664Leu
XM_011526611.1:c.1912G>T	XP_011524913.1:p.Val638Leu
XM_011526611.2:c.1912G>T	XP_011524913.1:p.Val638Leu
XM_017026467.1:c.1867G>T	XP_016881956.1:p.Val623Leu
XR_001753633.2:n.2037G>T
XR_001753634.2:n.1973G>T
NM_000400.4:c.1990G>T MANE Select	NP_000391.1:p.Val664Leu