Canonical Allele Identifier: CA9512943
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1415975
dbSNP Id: rs752510317

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352556G>A , CM000681.2:g.45352556G>A GRCh38
NC_000019.9:g.45855814G>A , CM000681.1:g.45855814G>A GRCh37
NC_000019.8:g.50547654G>A NCBI36
NG_007067.2:g.23032C>T , LRG_461:g.23032C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.1996C>T ENSP00000375808.4:p.Arg666Trp
ENST00000682414.1:c.1996C>T ENSP00000507019.1:p.Arg666Trp
ENST00000682508.1:n.2025C>T
ENST00000684218.1:c.*1254C>T ENSP00000507804.1:n.*1254C>T
ENST00000684264.1:n.1552C>T
ENST00000684407.1:c.1873C>T ENSP00000507775.1:p.Arg625Trp
ENST00000684458.1:c.*482C>T ENSP00000508260.1:n.*482C>T
ENST00000684468.1:n.1708C>T
ENST00000391945.10:c.1996C>T MANE Select ENSP00000375809.4:p.Arg666Trp
ENST00000646507.1:n.2093C>T
ENST00000391941.6:c.1924C>T ENSP00000375805.2:p.Arg642Trp
ENST00000391942.6:n.1167C>T
ENST00000391944.7:c.1762C>T ENSP00000375808.3:p.Arg588Trp
ENST00000391945.8:c.1996C>T ENSP00000375809.3:p.Arg666Trp
ENST00000588652.5:n.2084C>T
NM_000400.3:c.1996C>T , LRG_461t1:c.1996C>T NP_000391.1:p.Arg666Trp
XM_011526611.1:c.1918C>T XP_011524913.1:p.Arg640Trp
XM_011526611.2:c.1918C>T XP_011524913.1:p.Arg640Trp
XM_017026467.1:c.1873C>T XP_016881956.1:p.Arg625Trp
XR_001753633.2:n.2043C>T
XR_001753634.2:n.1979C>T
NM_000400.4:c.1996C>T MANE Select NP_000391.1:p.Arg666Trp