Canonical Allele Identifier: CA406362472

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1692433
• ClinVar RCV Id: RCV002257201 ; RCV002416541
• dbSNP Id: rs1260724831
• MyVariant Identifiers: chr19:g.45855593G>C (hg19) ; chr19:g.45352335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352335G>C , CM000681.2:g.45352335G>C	GRCh38
NC_000019.9:g.45855593G>C , CM000681.1:g.45855593G>C	GRCh37
NC_000019.8:g.50547433G>C	NCBI36
NG_007067.2:g.23253C>G , LRG_461:g.23253C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2064C>G	ENSP00000375808.4:p.Asp688Glu
ENST00000682414.1:c.2064C>G	ENSP00000507019.1:p.Asp688Glu
ENST00000682508.1:n.2093C>G
ENST00000684218.1:c.*1322C>G	ENSP00000507804.1:n.*1322C>G
ENST00000684264.1:n.1620C>G
ENST00000684407.1:c.1941C>G	ENSP00000507775.1:p.Asp647Glu
ENST00000684458.1:c.*550C>G	ENSP00000508260.1:n.*550C>G
ENST00000684468.1:n.1776C>G
ENST00000391945.10:c.2064C>G MANE Select	ENSP00000375809.4:p.Asp688Glu
ENST00000646507.1:n.2161C>G
ENST00000391941.6:c.1992C>G	ENSP00000375805.2:p.Asp664Glu
ENST00000391942.6:n.1235C>G
ENST00000391944.7:c.1830C>G	ENSP00000375808.3:p.Asp610Glu
ENST00000391945.8:c.2064C>G	ENSP00000375809.3:p.Asp688Glu
ENST00000588652.5:n.2152C>G
NM_000400.3:c.2064C>G , LRG_461t1:c.2064C>G	NP_000391.1:p.Asp688Glu
XM_011526611.1:c.1986C>G	XP_011524913.1:p.Asp662Glu
XM_011526611.2:c.1986C>G	XP_011524913.1:p.Asp662Glu
XM_017026467.1:c.1941C>G	XP_016881956.1:p.Asp647Glu
XR_001753633.2:n.2111C>G
XR_001753634.2:n.2047C>G
NM_000400.4:c.2064C>G MANE Select	NP_000391.1:p.Asp688Glu