Canonical Allele Identifier: CA406363019

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1784113
• ClinVar RCV Id: RCV002417050
• MyVariant Identifiers: chr19:g.45855811C>T (hg19) ; chr19:g.45352553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352553C>T , CM000681.2:g.45352553C>T	GRCh38
NC_000019.9:g.45855811C>T , CM000681.1:g.45855811C>T	GRCh37
NC_000019.8:g.50547651C>T	NCBI36
NG_007067.2:g.23035G>A , LRG_461:g.23035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1999G>A	ENSP00000375808.4:p.Ala667Thr
ENST00000682414.1:c.1999G>A	ENSP00000507019.1:p.Ala667Thr
ENST00000682508.1:n.2028G>A
ENST00000684218.1:c.*1257G>A	ENSP00000507804.1:n.*1257G>A
ENST00000684264.1:n.1555G>A
ENST00000684407.1:c.1876G>A	ENSP00000507775.1:p.Ala626Thr
ENST00000684458.1:c.*485G>A	ENSP00000508260.1:n.*485G>A
ENST00000684468.1:n.1711G>A
ENST00000391945.10:c.1999G>A MANE Select	ENSP00000375809.4:p.Ala667Thr
ENST00000646507.1:n.2096G>A
ENST00000391941.6:c.1927G>A	ENSP00000375805.2:p.Ala643Thr
ENST00000391942.6:n.1170G>A
ENST00000391944.7:c.1765G>A	ENSP00000375808.3:p.Ala589Thr
ENST00000391945.8:c.1999G>A	ENSP00000375809.3:p.Ala667Thr
ENST00000588652.5:n.2087G>A
NM_000400.3:c.1999G>A , LRG_461t1:c.1999G>A	NP_000391.1:p.Ala667Thr
XM_011526611.1:c.1921G>A	XP_011524913.1:p.Ala641Thr
XM_011526611.2:c.1921G>A	XP_011524913.1:p.Ala641Thr
XM_017026467.1:c.1876G>A	XP_016881956.1:p.Ala626Thr
XR_001753633.2:n.2046G>A
XR_001753634.2:n.1982G>A
NM_000400.4:c.1999G>A MANE Select	NP_000391.1:p.Ala667Thr