Canonical Allele Identifier: CA406362835

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2675053
• ClinVar RCV Id: RCV003467929 ; RCV003553951
• gnomAD v4: 19-45352529-C-G
• MyVariant Identifiers: chr19:g.45855787C>G (hg19) ; chr19:g.45352529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352529C>G , CM000681.2:g.45352529C>G	GRCh38
NC_000019.9:g.45855787C>G , CM000681.1:g.45855787C>G	GRCh37
NC_000019.8:g.50547627C>G	NCBI36
NG_007067.2:g.23059G>C , LRG_461:g.23059G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2023G>C	ENSP00000375808.4:p.Gly675Arg
ENST00000682414.1:c.2023G>C	ENSP00000507019.1:p.Gly675Arg
ENST00000682508.1:n.2052G>C
ENST00000684218.1:c.*1281G>C	ENSP00000507804.1:n.*1281G>C
ENST00000684264.1:n.1579G>C
ENST00000684407.1:c.1900G>C	ENSP00000507775.1:p.Gly634Arg
ENST00000684458.1:c.*509G>C	ENSP00000508260.1:n.*509G>C
ENST00000684468.1:n.1735G>C
ENST00000391945.10:c.2023G>C MANE Select	ENSP00000375809.4:p.Gly675Arg
ENST00000646507.1:n.2120G>C
ENST00000391941.6:c.1951G>C	ENSP00000375805.2:p.Gly651Arg
ENST00000391942.6:n.1194G>C
ENST00000391944.7:c.1789G>C	ENSP00000375808.3:p.Gly597Arg
ENST00000391945.8:c.2023G>C	ENSP00000375809.3:p.Gly675Arg
ENST00000588652.5:n.2111G>C
NM_000400.3:c.2023G>C , LRG_461t1:c.2023G>C	NP_000391.1:p.Gly675Arg
XM_011526611.1:c.1945G>C	XP_011524913.1:p.Gly649Arg
XM_011526611.2:c.1945G>C	XP_011524913.1:p.Gly649Arg
XM_017026467.1:c.1900G>C	XP_016881956.1:p.Gly634Arg
XR_001753633.2:n.2070G>C
XR_001753634.2:n.2006G>C
NM_000400.4:c.2023G>C MANE Select	NP_000391.1:p.Gly675Arg