Canonical Allele Identifier: CA126889
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16787
ClinVar RCV Id: RCV000018277
dbSNP Id: rs121913023

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352511C>T , CM000681.2:g.45352511C>T GRCh38
NC_000019.9:g.45855769C>T , CM000681.1:g.45855769C>T GRCh37
NC_000019.8:g.50547609C>T NCBI36
NG_007067.2:g.23077G>A , LRG_461:g.23077G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2041G>A MANE Select ENSP00000375809.4:p.Asp681Asn
ENST00000646507.1:n.2138G>A
ENST00000391941.6:c.1969G>A ENSP00000375805.2:p.Asp657Asn
ENST00000391942.6:n.1212G>A
ENST00000391944.7:c.1807G>A ENSP00000375808.3:p.Asp603Asn
ENST00000391945.8:c.2041G>A ENSP00000375809.3:p.Asp681Asn
ENST00000588652.5:n.2129G>A
NM_000400.3:c.2041G>A , LRG_461t1:c.2041G>A NP_000391.1:p.Asp681Asn
XM_011526611.1:c.1963G>A XP_011524913.1:p.Asp655Asn
XM_011526611.2:c.1963G>A XP_011524913.1:p.Asp655Asn
XM_017026467.1:c.1918G>A XP_016881956.1:p.Asp640Asn
XR_001753633.2:n.2088G>A
XR_001753634.2:n.2024G>A
NM_000400.4:c.2041G>A MANE Select NP_000391.1:p.Asp681Asn