Canonical Allele Identifier: CA507953334

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1785242
• ClinVar RCV Id: RCV002421991
• MyVariant Identifiers: chr19:g.45855596C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352338C>G , CM000681.2:g.45352338C>G	GRCh38
NC_000019.9:g.45855596C>G , CM000681.1:g.45855596C>G	GRCh37
NC_000019.8:g.50547436C>G	NCBI36
NG_007067.2:g.23250G>C , LRG_461:g.23250G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2061G>C	ENSP00000375808.4:p.Gly687=
ENST00000682414.1:c.2061G>C	ENSP00000507019.1:p.Gly687=
ENST00000682508.1:n.2090G>C
ENST00000684218.1:c.*1319G>C	ENSP00000507804.1:n.*1319G>C
ENST00000684264.1:n.1617G>C
ENST00000684407.1:c.1938G>C	ENSP00000507775.1:p.Gly646=
ENST00000684458.1:c.*547G>C	ENSP00000508260.1:n.*547G>C
ENST00000684468.1:n.1773G>C
ENST00000391945.10:c.2061G>C MANE Select	ENSP00000375809.4:p.Gly687=
ENST00000646507.1:n.2158G>C
ENST00000391941.6:c.1989G>C	ENSP00000375805.2:p.Gly663=
ENST00000391942.6:n.1232G>C
ENST00000391944.7:c.1827G>C	ENSP00000375808.3:p.Gly609=
ENST00000391945.8:c.2061G>C	ENSP00000375809.3:p.Gly687=
ENST00000588652.5:n.2149G>C
NM_000400.3:c.2061G>C , LRG_461t1:c.2061G>C	NP_000391.1:p.Gly687=
XM_011526611.1:c.1983G>C	XP_011524913.1:p.Gly661=
XM_011526611.2:c.1983G>C	XP_011524913.1:p.Gly661=
XM_017026467.1:c.1938G>C	XP_016881956.1:p.Gly646=
XR_001753633.2:n.2108G>C
XR_001753634.2:n.2044G>C
NM_000400.4:c.2061G>C MANE Select	NP_000391.1:p.Gly687=