Canonical Allele Identifier: CA507953368
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1592195
dbSNP Id: rs780813006
MyVariant Identifiers: chr19:g.45855809G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352551G>A , CM000681.2:g.45352551G>A GRCh38
NC_000019.9:g.45855809G>A , CM000681.1:g.45855809G>A GRCh37
NC_000019.8:g.50547649G>A NCBI36
NG_007067.2:g.23037C>T , LRG_461:g.23037C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.2001C>T ENSP00000375808.4:p.Ala667=
ENST00000682414.1:c.2001C>T ENSP00000507019.1:p.Ala667=
ENST00000682508.1:n.2030C>T
ENST00000684218.1:c.*1259C>T ENSP00000507804.1:n.*1259C>T
ENST00000684264.1:n.1557C>T
ENST00000684407.1:c.1878C>T ENSP00000507775.1:p.Ala626=
ENST00000684458.1:c.*487C>T ENSP00000508260.1:n.*487C>T
ENST00000684468.1:n.1713C>T
ENST00000391945.10:c.2001C>T MANE Select ENSP00000375809.4:p.Ala667=
ENST00000646507.1:n.2098C>T
ENST00000391941.6:c.1929C>T ENSP00000375805.2:p.Ala643=
ENST00000391942.6:n.1172C>T
ENST00000391944.7:c.1767C>T ENSP00000375808.3:p.Ala589=
ENST00000391945.8:c.2001C>T ENSP00000375809.3:p.Ala667=
ENST00000588652.5:n.2089C>T
NM_000400.3:c.2001C>T , LRG_461t1:c.2001C>T NP_000391.1:p.Ala667=
XM_011526611.1:c.1923C>T XP_011524913.1:p.Ala641=
XM_011526611.2:c.1923C>T XP_011524913.1:p.Ala641=
XM_017026467.1:c.1878C>T XP_016881956.1:p.Ala626=
XR_001753633.2:n.2048C>T
XR_001753634.2:n.1984C>T
NM_000400.4:c.2001C>T MANE Select NP_000391.1:p.Ala667=