Canonical Allele Identifier: CA507953318

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1785579
• ClinVar RCV Id: RCV002423891
• MyVariant Identifiers: chr19:g.45855575G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352317G>C , CM000681.2:g.45352317G>C	GRCh38
NC_000019.9:g.45855575G>C , CM000681.1:g.45855575G>C	GRCh37
NC_000019.8:g.50547415G>C	NCBI36
NG_007067.2:g.23271C>G , LRG_461:g.23271C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2082C>G	ENSP00000375808.4:p.Pro694=
ENST00000682414.1:c.2082C>G	ENSP00000507019.1:p.Pro694=
ENST00000682508.1:n.2111C>G
ENST00000684218.1:c.*1340C>G	ENSP00000507804.1:n.*1340C>G
ENST00000684264.1:n.1638C>G
ENST00000684407.1:c.1959C>G	ENSP00000507775.1:p.Pro653=
ENST00000684458.1:c.*568C>G	ENSP00000508260.1:n.*568C>G
ENST00000684468.1:n.1794C>G
ENST00000391945.10:c.2082C>G MANE Select	ENSP00000375809.4:p.Pro694=
ENST00000646507.1:n.2179C>G
ENST00000391941.6:c.2010C>G	ENSP00000375805.2:p.Pro670=
ENST00000391942.6:n.1253C>G
ENST00000391944.7:c.1848C>G	ENSP00000375808.3:p.Pro616=
ENST00000391945.8:c.2082C>G	ENSP00000375809.3:p.Pro694=
ENST00000588652.5:n.2170C>G
NM_000400.3:c.2082C>G , LRG_461t1:c.2082C>G	NP_000391.1:p.Pro694=
XM_011526611.1:c.2004C>G	XP_011524913.1:p.Pro668=
XM_011526611.2:c.2004C>G	XP_011524913.1:p.Pro668=
XM_017026467.1:c.1959C>G	XP_016881956.1:p.Pro653=
XR_001753633.2:n.2129C>G
XR_001753634.2:n.2065C>G
NM_000400.4:c.2082C>G MANE Select	NP_000391.1:p.Pro694=