Canonical Allele Identifier: CA406362415

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1705267
• ClinVar RCV Id: RCV002292386 ; RCV002416553
• dbSNP Id: rs2123222598
• gnomAD v3: 19-45352325-T-C
• gnomAD v4: 19-45352325-T-C
• MyVariant Identifiers: chr19:g.45855583T>C (hg19) ; chr19:g.45352325T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352325T>C , CM000681.2:g.45352325T>C	GRCh38
NC_000019.9:g.45855583T>C , CM000681.1:g.45855583T>C	GRCh37
NC_000019.8:g.50547423T>C	NCBI36
NG_007067.2:g.23263A>G , LRG_461:g.23263A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2074A>G	ENSP00000375808.4:p.Lys692Glu
ENST00000682414.1:c.2074A>G	ENSP00000507019.1:p.Lys692Glu
ENST00000682508.1:n.2103A>G
ENST00000684218.1:c.*1332A>G	ENSP00000507804.1:n.*1332A>G
ENST00000684264.1:n.1630A>G
ENST00000684407.1:c.1951A>G	ENSP00000507775.1:p.Lys651Glu
ENST00000684458.1:c.*560A>G	ENSP00000508260.1:n.*560A>G
ENST00000684468.1:n.1786A>G
ENST00000391945.10:c.2074A>G MANE Select	ENSP00000375809.4:p.Lys692Glu
ENST00000646507.1:n.2171A>G
ENST00000391941.6:c.2002A>G	ENSP00000375805.2:p.Lys668Glu
ENST00000391942.6:n.1245A>G
ENST00000391944.7:c.1840A>G	ENSP00000375808.3:p.Lys614Glu
ENST00000391945.8:c.2074A>G	ENSP00000375809.3:p.Lys692Glu
ENST00000588652.5:n.2162A>G
NM_000400.3:c.2074A>G , LRG_461t1:c.2074A>G	NP_000391.1:p.Lys692Glu
XM_011526611.1:c.1996A>G	XP_011524913.1:p.Lys666Glu
XM_011526611.2:c.1996A>G	XP_011524913.1:p.Lys666Glu
XM_017026467.1:c.1951A>G	XP_016881956.1:p.Lys651Glu
XR_001753633.2:n.2121A>G
XR_001753634.2:n.2057A>G
NM_000400.4:c.2074A>G MANE Select	NP_000391.1:p.Lys692Glu