Canonical Allele Identifier: CA406362354

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352311-C-G
• MyVariant Identifiers: chr19:g.45855569C>G (hg19) ; chr19:g.45352311C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352311C>G , CM000681.2:g.45352311C>G	GRCh38
NC_000019.9:g.45855569C>G , CM000681.1:g.45855569C>G	GRCh37
NC_000019.8:g.50547409C>G	NCBI36
NG_007067.2:g.23277G>C , LRG_461:g.23277G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2088G>C	ENSP00000375808.4:p.Trp696Cys
ENST00000682414.1:c.2088G>C	ENSP00000507019.1:p.Trp696Cys
ENST00000682508.1:n.2117G>C
ENST00000684218.1:c.*1346G>C	ENSP00000507804.1:n.*1346G>C
ENST00000684264.1:n.1644G>C
ENST00000684407.1:c.1965G>C	ENSP00000507775.1:p.Trp655Cys
ENST00000684458.1:c.*574G>C	ENSP00000508260.1:n.*574G>C
ENST00000684468.1:n.1800G>C
ENST00000391945.10:c.2088G>C MANE Select	ENSP00000375809.4:p.Trp696Cys
ENST00000646507.1:n.2185G>C
ENST00000391941.6:c.2016G>C	ENSP00000375805.2:p.Trp672Cys
ENST00000391942.6:n.1259G>C
ENST00000391944.7:c.1854G>C	ENSP00000375808.3:p.Trp618Cys
ENST00000391945.8:c.2088G>C	ENSP00000375809.3:p.Trp696Cys
ENST00000588652.5:n.2176G>C
NM_000400.3:c.2088G>C , LRG_461t1:c.2088G>C	NP_000391.1:p.Trp696Cys
XM_011526611.1:c.2010G>C	XP_011524913.1:p.Trp670Cys
XM_011526611.2:c.2010G>C	XP_011524913.1:p.Trp670Cys
XM_017026467.1:c.1965G>C	XP_016881956.1:p.Trp655Cys
XR_001753633.2:n.2135G>C
XR_001753634.2:n.2071G>C
NM_000400.4:c.2088G>C MANE Select	NP_000391.1:p.Trp696Cys