Canonical Allele Identifier: CA406363009

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2602373
• ClinVar RCV Id: RCV003351826
• MyVariant Identifiers: chr19:g.45855808T>G (hg19) ; chr19:g.45352550T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352550T>G , CM000681.2:g.45352550T>G	GRCh38
NC_000019.9:g.45855808T>G , CM000681.1:g.45855808T>G	GRCh37
NC_000019.8:g.50547648T>G	NCBI36
NG_007067.2:g.23038A>C , LRG_461:g.23038A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2002A>C	ENSP00000375808.4:p.Ile668Leu
ENST00000682414.1:c.2002A>C	ENSP00000507019.1:p.Ile668Leu
ENST00000682508.1:n.2031A>C
ENST00000684218.1:c.*1260A>C	ENSP00000507804.1:n.*1260A>C
ENST00000684264.1:n.1558A>C
ENST00000684407.1:c.1879A>C	ENSP00000507775.1:p.Ile627Leu
ENST00000684458.1:c.*488A>C	ENSP00000508260.1:n.*488A>C
ENST00000684468.1:n.1714A>C
ENST00000391945.10:c.2002A>C MANE Select	ENSP00000375809.4:p.Ile668Leu
ENST00000646507.1:n.2099A>C
ENST00000391941.6:c.1930A>C	ENSP00000375805.2:p.Ile644Leu
ENST00000391942.6:n.1173A>C
ENST00000391944.7:c.1768A>C	ENSP00000375808.3:p.Ile590Leu
ENST00000391945.8:c.2002A>C	ENSP00000375809.3:p.Ile668Leu
ENST00000588652.5:n.2090A>C
NM_000400.3:c.2002A>C , LRG_461t1:c.2002A>C	NP_000391.1:p.Ile668Leu
XM_011526611.1:c.1924A>C	XP_011524913.1:p.Ile642Leu
XM_011526611.2:c.1924A>C	XP_011524913.1:p.Ile642Leu
XM_017026467.1:c.1879A>C	XP_016881956.1:p.Ile627Leu
XR_001753633.2:n.2049A>C
XR_001753634.2:n.1985A>C
NM_000400.4:c.2002A>C MANE Select	NP_000391.1:p.Ile668Leu