Canonical Allele Identifier: CA406362742

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352516-A-T
• MyVariant Identifiers: chr19:g.45855774A>T (hg19) ; chr19:g.45352516A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352516A>T , CM000681.2:g.45352516A>T	GRCh38
NC_000019.9:g.45855774A>T , CM000681.1:g.45855774A>T	GRCh37
NC_000019.8:g.50547614A>T	NCBI36
NG_007067.2:g.23072T>A , LRG_461:g.23072T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2036T>A	ENSP00000375808.4:p.Phe679Tyr
ENST00000682414.1:c.2036T>A	ENSP00000507019.1:p.Phe679Tyr
ENST00000682508.1:n.2065T>A
ENST00000684218.1:c.*1294T>A	ENSP00000507804.1:n.*1294T>A
ENST00000684264.1:n.1592T>A
ENST00000684407.1:c.1913T>A	ENSP00000507775.1:p.Phe638Tyr
ENST00000684458.1:c.*522T>A	ENSP00000508260.1:n.*522T>A
ENST00000684468.1:n.1748T>A
ENST00000391945.10:c.2036T>A MANE Select	ENSP00000375809.4:p.Phe679Tyr
ENST00000646507.1:n.2133T>A
ENST00000391941.6:c.1964T>A	ENSP00000375805.2:p.Phe655Tyr
ENST00000391942.6:n.1207T>A
ENST00000391944.7:c.1802T>A	ENSP00000375808.3:p.Phe601Tyr
ENST00000391945.8:c.2036T>A	ENSP00000375809.3:p.Phe679Tyr
ENST00000588652.5:n.2124T>A
NM_000400.3:c.2036T>A , LRG_461t1:c.2036T>A	NP_000391.1:p.Phe679Tyr
XM_011526611.1:c.1958T>A	XP_011524913.1:p.Phe653Tyr
XM_011526611.2:c.1958T>A	XP_011524913.1:p.Phe653Tyr
XM_017026467.1:c.1913T>A	XP_016881956.1:p.Phe638Tyr
XR_001753633.2:n.2083T>A
XR_001753634.2:n.2019T>A
NM_000400.4:c.2036T>A MANE Select	NP_000391.1:p.Phe679Tyr