Canonical Allele Identifier: CA406363794

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1490319
• ClinVar RCV Id: RCV001983679
• dbSNP Id: rs2123225575
• MyVariant Identifiers: chr19:g.45856033A>G (hg19) ; chr19:g.45352775A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352775A>G , CM000681.2:g.45352775A>G	GRCh38
NC_000019.9:g.45856033A>G , CM000681.1:g.45856033A>G	GRCh37
NC_000019.8:g.50547873A>G	NCBI36
NG_007067.2:g.22813T>C , LRG_461:g.22813T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1873T>C	ENSP00000375808.4:p.Tyr625His
ENST00000682414.1:c.1873T>C	ENSP00000507019.1:p.Tyr625His
ENST00000682508.1:n.1902T>C
ENST00000684218.1:c.*1131T>C	ENSP00000507804.1:n.*1131T>C
ENST00000684264.1:n.1429T>C
ENST00000684407.1:c.1750T>C	ENSP00000507775.1:p.Tyr584His
ENST00000684458.1:c.*359T>C	ENSP00000508260.1:n.*359T>C
ENST00000684468.1:n.1585T>C
ENST00000391945.10:c.1873T>C MANE Select	ENSP00000375809.4:p.Tyr625His
ENST00000646507.1:n.1970T>C
ENST00000391941.6:c.1801T>C	ENSP00000375805.2:p.Tyr601His
ENST00000391942.6:n.1044T>C
ENST00000391944.7:c.1639T>C	ENSP00000375808.3:p.Tyr547His
ENST00000391945.8:c.1873T>C	ENSP00000375809.3:p.Tyr625His
ENST00000588652.5:n.1961T>C
NM_000400.3:c.1873T>C , LRG_461t1:c.1873T>C	NP_000391.1:p.Tyr625His
XM_011526611.1:c.1795T>C	XP_011524913.1:p.Tyr599His
XM_011526611.2:c.1795T>C	XP_011524913.1:p.Tyr599His
XM_017026467.1:c.1750T>C	XP_016881956.1:p.Tyr584His
XR_001753633.2:n.1920T>C
XR_001753634.2:n.1856T>C
NM_000400.4:c.1873T>C MANE Select	NP_000391.1:p.Tyr625His